X-153608600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608600
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608600
    reference: chr 0
allele count: 19
allele frequency: 2.236372838663355e-4
allele num: 84959
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*177A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.272A>G
  hgvsp: ENSP00000358857.4:p.Asn91Ser
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.167A>G
  hgvsp: ENSP00000358850.3:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.232A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.255A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.462A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.630A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.543A>G
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19141
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn91Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

X-153608604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608604
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608604
    reference: chr 0
allele count: 4
allele frequency: 4.69941374813492e-5
allele num: 85117
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.634C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.259C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.171C>T
  hgvsp: ENST00000369835.3:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*181C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.236C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.276C>T
  hgvsp: ENST00000369842.4:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.547C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.466C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12891
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp92Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

X-153608618-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608618
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608618
    reference: chr 0
allele count: 1
allele frequency: 1.168524620813761e-5
allele num: 85578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.250A>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.561A>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.273A>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.290A>C
  hgvsp: ENSP00000358857.4:p.Glu97Ala
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*195A>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.480A>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.185A>C
  hgvsp: ENSP00000358850.3:p.Glu62Ala
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.648A>C
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5647
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu97Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

X-153608621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608621
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608621
    reference: chr 0
allele count: 1
allele frequency: 1.167896851350089e-5
allele num: 85624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.276G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.293G>A
  hgvsp: ENSP00000358857.4:p.Ser98Asn
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.564G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.253G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*198G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.651G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.483G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.188G>A
  hgvsp: ENSP00000358850.3:p.Ser63Asn
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser98Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

X-153608623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608623
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608623
    reference: chr 0
allele count: 1
allele frequency: 1.167147142240222e-5
allele num: 85679
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.255T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.653T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.278T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.485T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.566T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.295T>C
  hgvsp: ENSP00000358857.4:p.Tyr99His
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*200T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.190T>C
  hgvsp: ENSP00000358850.3:p.Tyr64His
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr99His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

X-153608628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608628
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608628
    reference: chr 0
allele count: 1
allele frequency: 1.166752228496756e-5
allele num: 85708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.571C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.300C>T
  hgvsp: ENST00000369842.4:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.260C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.195C>T
  hgvsp: ENST00000369835.3:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*205C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.283C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.490C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.658C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe100Phe
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

X-153608634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608634
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608634
    reference: chr 0
allele count: 1
allele frequency: 1.165487581729817e-5
allele num: 85801
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*211C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.289C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.306C>T
  hgvsp: ENST00000369842.4:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.266C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.664C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.201C>T
  hgvsp: ENST00000369835.3:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.496C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.577C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr102Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

X-153608642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608642
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608642
    reference: chr 0
allele count: 1
allele frequency: 1.165093790050099e-5
allele num: 85830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.504A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.314A>G
  hgvsp: ENSP00000358857.4:p.Tyr105Cys
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.274A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.297A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.585A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.672A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*219A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.209A>G
  hgvsp: ENSP00000358850.3:p.Tyr70Cys
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr105Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

X-153608650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608650
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608650
    reference: chr 0
allele count: 1
allele frequency: 1.165895232654394e-5
allele num: 85771
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.305C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.322C>T
  hgvsp: ENSP00000358857.4:p.Pro108Ser
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.217C>T
  hgvsp: ENSP00000358850.3:p.Pro73Ser
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*227C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.512C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.593C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.680C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.282C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro108Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

X-153608658-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608658
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608658
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 85759
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.601T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.520T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.225T>G
  hgvsp: ENST00000369835.3:c.225T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.313T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.290T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*235T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.688T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.330T>G
  hgvsp: ENST00000369842.4:c.330T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser110Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

X-153608661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608661
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608661
    reference: chr 0
allele count: 2
allele frequency: 2.332769580684668e-5
allele num: 85735
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.316C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.333C>T
  hgvsp: ENST00000369842.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.523C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.228C>T
  hgvsp: ENST00000369835.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.293C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.691C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*238C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.604C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala111Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

X-153608662-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608662
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608662
    reference: chr 0
allele count: 2
allele frequency: 2.332687956332081e-5
allele num: 85738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.692G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.334G>T
  hgvsp: ENSP00000358857.4:p.Gly112Cys
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.605G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.317G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*239G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.229G>T
  hgvsp: ENSP00000358850.3:p.Gly77Cys
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.294G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.524G>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly112Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

X-153608678-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608678
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608678
    reference: chr 0
allele count: 1
allele frequency: 1.167283381386499e-5
allele num: 85669
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.333T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*255T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.350T>G
  hgvsp: ENSP00000358857.4:p.Val117Gly
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.621T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.245T>G
  hgvsp: ENSP00000358850.3:p.Val82Gly
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.708T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.310T>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.540T>G
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val117Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

X-153608681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608681
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608681
    reference: chr 0
allele count: 2
allele frequency: 2.333177788147457e-5
allele num: 85720
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.353G>A
  hgvsp: ENSP00000358857.4:p.Arg118His
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.624G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*258G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.313G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.336G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.543G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.711G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.248G>A
  hgvsp: ENSP00000358850.3:p.Arg83His
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19955
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12895
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg118His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

X-153608683-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608683
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608683
    reference: chr 0
allele count: 1
allele frequency: 1.165582674779122e-5
allele num: 85794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.250C>A
  hgvsp: ENSP00000358850.3:p.Gln84Lys
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.338C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.355C>A
  hgvsp: ENSP00000358857.4:p.Gln119Lys
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.545C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*260C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.626C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.713C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.315C>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln119Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

X-153608687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608687
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608687
    reference: chr 0
allele count: 1
allele frequency: 1.165378922956799e-5
allele num: 85809
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.319C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.630C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.342C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.549C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.254C>T
  hgvsp: ENSP00000358850.3:p.Ser85Leu
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*264C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.359C>T
  hgvsp: ENSP00000358857.4:p.Ser120Leu
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.717C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser120Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

X-153608700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608700
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608700
    reference: chr 0
allele count: 1
allele frequency: 1.165609847071988e-5
allele num: 85792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.267C>T
  hgvsp: ENST00000369835.3:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.643C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.355C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.730C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.332C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.372C>T
  hgvsp: ENST00000369842.4:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*277C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.562C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe124Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-153608713-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608713
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608713
    reference: chr 0
allele count: 2
allele frequency: 2.335711866584138e-5
allele num: 85627
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.280G>A
  hgvsp: ENSP00000358850.3:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.345G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.385G>A
  hgvsp: ENSP00000358857.4:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*290G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.575G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.368G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.656G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.743G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala129Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

X-153608718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608718
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608718
    reference: chr 0
allele count: 2
allele frequency: 2.336885399140026e-5
allele num: 85584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.350C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.661C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.390C>T
  hgvsp: ENST00000369842.4:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.580C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.373C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.285C>T
  hgvsp: ENST00000369835.3:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.748C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*295C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12894
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe130Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS

X-153608721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608721
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608721
    reference: chr 0
allele count: 1
allele frequency: 1.168961728193019e-5
allele num: 85546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.583T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.751T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.393T>C
  hgvsp: ENST00000369842.4:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.353T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.376T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.664T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*298T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.288T>C
  hgvsp: ENST00000369835.3:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His131His
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

X-153608724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608724
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608724
    reference: chr 0
allele count: 54
allele frequency: 6.314755478635078e-4
allele num: 85514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.379C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*301C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.291C>T
  hgvsp: ENST00000369835.3:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.356C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.754C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.667C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.396C>T
  hgvsp: ENST00000369842.4:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.586C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 2
hgvs: p.His132His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

X-153608737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608737
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608737
    reference: chr 0
allele count: 2
allele frequency: 2.344885804061342e-5
allele num: 85292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*304+10C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.399+10C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.359+10C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.382+10C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.757+10C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.294+10C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.589+10C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.680C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

X-153608745-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608745
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608745
    reference: chr 0
allele count: 1
allele frequency: 1.174494673666655e-5
allele num: 85143
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.688C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.399+18C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.589+18C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.757+18C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.382+18C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.294+18C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.359+18C>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*304+18C>A
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

X-153608745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608745
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608745
    reference: chr 0
allele count: 143
allele frequency: 1.679527383343317e-3
allele num: 85143
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.688C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.399+18C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.294+18C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*304+18C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.757+18C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.382+18C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.359+18C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.589+18C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 18464
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12612
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 25927
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12970
  bin: 9.75e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

X-153608758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608758
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608758
    reference: chr 0
allele count: 1
allele frequency: 1.176761317501971e-5
allele num: 84979
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*304+31G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.701G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.382+31G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.399+31G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.359+31G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.589+31G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.757+31G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.294+31G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS

X-153608770-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608770
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608770
    reference: chr 0
allele count: 27
allele frequency: 3.189415864390763e-4
allele num: 84655
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.399+43G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.382+43G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.359+43G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.713G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.589+43G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*304+43G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.294+43G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.757+43G>C
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10730
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14169
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4903
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

X-153608772-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608772
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608772
    reference: chr 0
allele count: 1
allele frequency: 1.183361931246672e-5
allele num: 84505
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.359+45G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.757+45G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.399+45G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.589+45G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*304+45G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.294+45G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.715G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.382+45G>C
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

X-153608776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608776
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608776
    reference: chr 0
allele count: 49
allele frequency: 5.814781411686524e-4
allele num: 84268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.719G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.359+49G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.589+49G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.382+49G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.294+49G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*304+49G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.399+49G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.757+49G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15050
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-153608777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608777
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608777
    reference: chr 0
allele count: 1
allele frequency: 1.187225454113736e-5
allele num: 84230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.294+50C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.359+50C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.382+50C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.589+50C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.720C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.757+50C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*304+50C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.399+50C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

X-153608778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153608778
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153608778
    reference: chr 0
allele count: 2
allele frequency: 2.379875770484781e-5
allele num: 84038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.757+51G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000494443
  gene symbol: EMD
  hgvsc: ENST00000494443.1:n.721G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.359+51G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.589+51G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.399+51G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.382+51G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*304+51G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.294+51G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

X-153609067-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609067
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609067
    reference: chr 0
allele count: 1
allele frequency: 1.159299319491299e-5
allele num: 86259
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.143T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.590-46T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.295-46T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.758-46T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.400-46T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.360-46T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*305-46T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.383-46T>C
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

X-153609078-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609078
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609078
    reference: chr 0
allele count: 1
allele frequency: 1.153522280282844e-5
allele num: 86691
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.154C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.590-35C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.383-35C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.400-35C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.360-35C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.758-35C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.295-35C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*305-35C>G
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

X-153609080-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609080
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609080
    reference: chr 0
allele count: 1
allele frequency: 1.152485334624117e-5
allele num: 86769
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.295-33A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.590-33A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.383-33A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.360-33A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.758-33A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*305-33A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.400-33A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.156A>G
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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genotype depth: GenotypeDepth
  all individuals: 613
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

X-153609082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609082
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609082
    reference: chr 0
allele count: 1
allele frequency: 1.152312691571985e-5
allele num: 86782
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.400-31C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.758-31C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*305-31C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.295-31C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.383-31C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.590-31C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.158C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.360-31C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11004
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

X-153609093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609093
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609093
    reference: chr 0
allele count: 10
allele frequency: 1.150324391478397e-4
allele num: 86932
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.400-20G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*305-20G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.383-20G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.295-20G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.758-20G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.169G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.590-20G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.360-20G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-153609099-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609099
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609099
    reference: chr 0
allele count: 4
allele frequency: 4.598229681572594e-5
allele num: 86990
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.400-14A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.175A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*305-14A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.295-14A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.383-14A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.758-14A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.590-14A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.360-14A>G
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28022
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

X-153609104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609104
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609104
    reference: chr 0
allele count: 10
allele frequency: 1.149015867909136e-4
allele num: 87031
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.400-9C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*305-9C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.383-9C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.360-9C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.758-9C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.180C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.590-9C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.295-9C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-153609107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609107
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609107
    reference: chr 0
allele count: 2
allele frequency: 2.29742458703793e-5
allele num: 87054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.360-6C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*305-6C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.590-6C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.758-6C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.383-6C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.295-6C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.400-6C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.183C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
hgvs: c.400-6C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-153609109-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609109
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609109
    reference: chr 0
allele count: 2
allele frequency: 2.297028793255923e-5
allele num: 87069
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.383-4G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.295-4G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*305-4G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.758-4G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.360-4G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.590-4G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.185G>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.400-4G>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
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genotype depth: GenotypeDepth
  all individuals: 36
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genotype depth: GenotypeDepth
  all individuals: 54
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genotype depth: GenotypeDepth
  all individuals: 11086
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genotype depth: GenotypeDepth
  all individuals: 177
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28092
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genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: c.400-4G>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

X-153609116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609116
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609116
    reference: chr 0
allele count: 1
allele frequency: 1.147710317915758e-5
allele num: 87130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.363C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.298C>T
  hgvsp: ENSP00000358850.3:p.His100Tyr
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.761C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.386C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.403C>T
  hgvsp: ENSP00000358857.4:p.His135Tyr
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*308C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.593C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.192C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 298
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
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genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His135Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-153609125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609125
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609125
    reference: chr 0
allele count: 2
allele frequency: 2.294183098753112e-5
allele num: 87177
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.602G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.307G>A
  hgvsp: ENSP00000358850.3:p.Asp103Asn
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.372G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.412G>A
  hgvsp: ENSP00000358857.4:p.Asp138Asn
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.770G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.201G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*317G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.395G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 11091
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp138Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-153609141-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609141
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609141
    reference: chr 0
allele count: 16
allele frequency: 1.834042114192047e-4
allele num: 87239
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.618C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.428C>T
  hgvsp: ENSP00000358857.4:p.Ser143Phe
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.323C>T
  hgvsp: ENSP00000358850.3:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*333C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.217C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.411C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.388C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.786C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 9.75e1
  variant carriers: 16
hgvs: p.Ser143Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

X-153609145-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609145
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609145
    reference: chr 0
allele count: 6
allele frequency: 6.875372416005867e-5
allele num: 87268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.221A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.622A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.415A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.327A>G
  hgvsp: ENST00000369835.3:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*337A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.432A>G
  hgvsp: ENST00000369842.4:c.432A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.392A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.790A>G
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu144Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-153609149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609149
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609149
    reference: chr 0
allele count: 2
allele frequency: 2.29147571035747e-5
allele num: 87280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.436G>A
  hgvsp: ENSP00000358857.4:p.Glu146Lys
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.396G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.626G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.225G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*341G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.794G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.331G>A
  hgvsp: ENSP00000358850.3:p.Glu111Lys
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.419G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu146Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

X-153609157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609157
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609157
    reference: chr 0
allele count: 2
allele frequency: 2.291396950150659e-5
allele num: 87283
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.802G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.339G>A
  hgvsp: ENST00000369835.3:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.404G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.444G>A
  hgvsp: ENST00000369842.4:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.427G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*349G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.634G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.233G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys148Lys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

X-153609158-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609158
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609158
    reference: chr 0
allele count: 58
allele frequency: 6.645127288558924e-4
allele num: 87282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.803G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.445G>C
  hgvsp: ENSP00000358857.4:p.Asp149His
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*350G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.340G>C
  hgvsp: ENSP00000358850.3:p.Asp114His
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.234G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.405G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.428G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.635G>C
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7492
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp149His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS

X-153609167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609167
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609167
    reference: chr 0
allele count: 1
allele frequency: 1.145422890131036e-5
allele num: 87304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.449+5G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.344+5G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.238+5G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.644G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.414G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.432+5G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*354+5G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.812G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: c.449+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-153609171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609171
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609171
    reference: chr 0
allele count: 2
allele frequency: 2.290688351849731e-5
allele num: 87310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.816T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.432+9T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.648T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*354+9T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.238+9T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.418T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.449+9T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.344+9T>C
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

X-153609172-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609172
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609172
    reference: chr 0
allele count: 2
allele frequency: 2.290452249796722e-5
allele num: 87319
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*354+10G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.649G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.449+10G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.432+10G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.419G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.817G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.344+10G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.238+10G>C
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

X-153609173-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609173
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609173
    reference: chr 0
allele count: 30
allele frequency: 3.435442313197824e-4
allele num: 87325
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.432+11G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.344+11G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.818G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.420G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*354+11G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.238+11G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.650G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.449+11G>C
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

X-153609187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609187
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609187
    reference: chr 0
allele count: 1
allele frequency: 1.145239240477336e-5
allele num: 87318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.432+25C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*354+25C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.344+25C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.434C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.832C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.449+25C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.664C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.238+25C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

X-153609188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609188
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609188
    reference: chr 0
allele count: 13
allele frequency: 1.488811012620536e-4
allele num: 87318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*354+26G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.833G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.344+26G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.432+26G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.435G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.665G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.238+26G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.449+26G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

X-153609191-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609191
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609191
    reference: chr 0
allele count: 1
allele frequency: 1.145396650860193e-5
allele num: 87306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.238+29C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.432+29C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.836C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.438C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.668C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.449+29C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*354+29C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.344+29C>G
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

X-153609201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609201
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609201
    reference: chr 0
allele count: 1
allele frequency: 1.145396650860193e-5
allele num: 87306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.449+39G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.238+39G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*354+39G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.448G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.846G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.678G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.344+39G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.432+39G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 287
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

X-153609225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609225
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609225
    reference: chr 0
allele count: 1
allele frequency: 1.145501615157277e-5
allele num: 87298
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.450-17C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.870C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.472C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.433-17C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.702C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.239-17C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.345-17C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*355-17C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 710
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

X-153609229-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609229
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609229
    reference: chr 0
allele count: 1
allele frequency: 1.145593474699568e-5
allele num: 87291
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.450-13T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.476T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.239-13T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*355-13T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.345-13T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.706T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.874T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.433-13T>C
  variant of: http://identifiers.org/hgnc/3331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11085
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12643
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1491
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

X-153609246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609246
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609246
    reference: chr 0
allele count: 3
allele frequency: 3.435717721432007e-5
allele num: 87318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.454C>T
  hgvsp: ENSP00000358857.4:p.Arg152Cys
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.349C>T
  hgvsp: ENSP00000358850.3:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.437C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.891C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*359C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.723C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.493C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.243C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7416
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg152Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

X-153609247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609247
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609247
    reference: chr 0
allele count: 1
allele frequency: 1.145304822878609e-5
allele num: 87313
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.892G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*360G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.244G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.724G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.350G>A
  hgvsp: ENSP00000358850.3:p.Arg117His
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.494G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.455G>A
  hgvsp: ENSP00000358857.4:p.Arg152His
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.438G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg152His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

X-153609250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609250
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609250
    reference: chr 0
allele count: 5
allele frequency: 5.726065048098946e-5
allele num: 87320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.441C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.458C>T
  hgvsp: ENSP00000358857.4:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.727C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.247C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.353C>T
  hgvsp: ENSP00000358850.3:p.Pro118Leu
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*363C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.497C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.895C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro153Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

X-153609251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609251
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609251
    reference: chr 0
allele count: 1
allele frequency: 1.14519989464161e-5
allele num: 87321
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.248C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.459C>T
  hgvsp: ENST00000369842.4:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.442C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.896C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.354C>T
  hgvsp: ENST00000369835.3:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.498C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*364C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.728C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro153Pro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

X-153609252-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609252
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609252
    reference: chr 0
allele count: 1
allele frequency: 1.145134324256235e-5
allele num: 87326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*365A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.499A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.443A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.249A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.729A>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.355A>G
  hgvsp: ENSP00000358850.3:p.Met119Val
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.460A>G
  hgvsp: ENSP00000358857.4:p.Met154Val
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.897A>G
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met154Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

X-153609253-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609253
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609253
    reference: chr 0
allele count: 1
allele frequency: 1.145003206008977e-5
allele num: 87336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.250T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*366T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.898T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.730T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.461T>C
  hgvsp: ENSP00000358857.4:p.Met154Thr
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.444T>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.356T>C
  hgvsp: ENSP00000358850.3:p.Met119Thr
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000468294
  gene symbol: EMD
  hgvsc: ENST00000468294.1:n.500T>C
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40574
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met154Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-153609257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609257
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609257
    reference: chr 0
allele count: 112
allele frequency: 1.282432958527034e-3
allele num: 87334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.360C>T
  hgvsp: ENST00000369835.3:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.902C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.734C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.448C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*370C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.465C>T
  hgvsp: ENST00000369842.4:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.254C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28273
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr155Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

X-153609258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609258
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609258
    reference: chr 0
allele count: 34
allele frequency: 3.893412117672656e-4
allele num: 87327
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.255G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.466G>A
  hgvsp: ENSP00000358857.4:p.Gly156Ser
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.903G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*371G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.449G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.361G>A
  hgvsp: ENSP00000358850.3:p.Gly121Ser
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.735G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly156Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

X-153609258-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609258
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609258
    reference: chr 0
allele count: 9
allele frequency: 1.030609089972174e-4
allele num: 87327
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.361G>C
  hgvsp: ENSP00000358850.3:p.Gly121Arg
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.449G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*371G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.735G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.255G>C
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.466G>C
  hgvsp: ENSP00000358857.4:p.Gly156Arg
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.903G>C
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly156Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

X-153609261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609261
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609261
    reference: chr 0
allele count: 1
allele frequency: 1.145147437732608e-5
allele num: 87325
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.364C>T
  hgvsp: ENSP00000358850.3:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.258C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.906C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.452C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*374C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.469C>T
  hgvsp: ENSP00000358857.4:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.738C>T
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg157Trp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS

X-153609262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609262
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609262
    reference: chr 0
allele count: 7
allele frequency: 8.016399262491268e-5
allele num: 87321
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.907G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.365G>A
  hgvsp: ENSP00000358850.3:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.739G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.470G>A
  hgvsp: ENSP00000358857.4:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.453G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*375G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.259G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg157Gln
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

X-153609278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609278
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609278
    reference: chr 0
allele count: 1
allele frequency: 1.144911441100031e-5
allele num: 87343
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.486G>A
  hgvsp: ENST00000369842.4:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.469G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.923G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.381G>A
  hgvsp: ENST00000369835.3:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*391G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.755G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.275G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln162Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

X-153609281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609281
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609281
    reference: chr 0
allele count: 2
allele frequency: 2.2899277527794e-5
allele num: 87339
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*394C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.926C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.278C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.384C>T
  hgvsp: ENST00000369835.3:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.758C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.472C>T
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.489C>T
  hgvsp: ENST00000369842.4:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser163Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

X-153609287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609287
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609287
    reference: chr 0
allele count: 46
allele frequency: 5.266954440844087e-4
allele num: 87337
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.284G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*400G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.495G>A
  hgvsp: ENST00000369842.4:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.764G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.390G>A
  hgvsp: ENST00000369835.3:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.932G>A
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.478G>A
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Thr165Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

X-153609311-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153609311
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153609311
    reference: chr 0
allele count: 1
allele frequency: 1.14502942725628e-5
allele num: 87334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000486738
  gene symbol: EMD
  hgvsc: ENST00000486738.1:n.956C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000485261
  gene symbol: EMD
  hgvsc: ENST00000485261.1:n.788C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358857
  ensembl transcript: ENST00000369842
  gene symbol: EMD
  hgvsc: ENST00000369842.4:c.519C>G
  hgvsp: ENST00000369842.4:c.519C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000358850
  ensembl transcript: ENST00000369835
  gene symbol: EMD
  hgvsc: ENST00000369835.3:c.414C>G
  hgvsp: ENST00000369835.3:c.414C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102119
  ensembl protein: ENSP00000401081
  ensembl transcript: ENST00000428228
  gene symbol: EMD
  hgvsc: ENST00000428228.1:c.*424C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000471965
  gene symbol: EMD
  hgvsc: ENST00000471965.1:n.308C>G
  variant of: http://identifiers.org/hgnc/3331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102119
  ensembl transcript: ENST00000492448
  gene symbol: EMD
  hgvsc: ENST00000492448.1:n.502C>G
  variant of: http://identifiers.org/hgnc/3331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7367
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser173Ser
num of homozygotes: 0
population: East Asian
reference allele: C

GenotypeQuality
all individuals: 583
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2273
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12889
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 25978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 605
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6563
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 4.123263888888889e-4
allele num: 46080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10001
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

DP
type: SiteQuality
SIO_000300: 1.96024e6

QD
type: SiteQuality
SIO_000300: 1.864e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: -6.688e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.57e-2

FS
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26411
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GenotypeQuality
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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: 104
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9245
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.517220452131695e-4
allele num: 6591
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 6.500400858052913e-5
allele num: 46151
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.931e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -8.706e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

FS
type: SiteQuality
SIO_000300: 2.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.39e-2

DP
type: SiteQuality
SIO_000300: 1.966287e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.533e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9265
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46416
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8207
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.644736842105263e-3
allele num: 608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

DP
type: SiteQuality
SIO_000300: 1.981044e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 1.369e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.153223375392963e-5
allele num: 46442
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10061
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9269
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

QD
type: SiteQuality
SIO_000300: 5.94e0

DP
type: SiteQuality
SIO_000300: 1.98265e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.544e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.261e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -1.914e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 2.599e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.151740758273443e-5
allele num: 46474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6607
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4432
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 3.4e0

DP
type: SiteQuality
SIO_000300: 1.983376e6

VQSLOD
type: SiteQuality
SIO_000300: -2.684e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8221
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4449
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.931472837421789e-5
allele num: 10069
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6607
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46480
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.253e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.138e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 1.756e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

DP
type: SiteQuality
SIO_000300: 1.984863e6

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9273
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10077
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8229
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.149151085321298e-5
allele num: 46530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.103e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.986097e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-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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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46553
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 613
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.918666931164451e-5
allele num: 10082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.986133e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4491
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.078515962036238e-4
allele num: 9272
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8199
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46505
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.984723e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
type: Population
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allele frequency: 0.0e0
allele num: 611
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9273
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46483
num of homozygotes: 0

East Asian
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: -7.703e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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SIO_000300: 3.743e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.984295e6

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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bin: 7.75e1
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GenotypeQuality
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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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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.152018593440647e-5
allele num: 46468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8191
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.9147332936744e-5
allele num: 10086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

DP
type: SiteQuality
SIO_000300: 1.984513e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

FS
type: SiteQuality
SIO_000300: 6.125e0

QD
type: SiteQuality
SIO_000300: 1.434e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4503
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.983930165658169e-4
allele num: 10081
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46477
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6605
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8185
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9275
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

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

QD
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SIO_000300: 1.492e1

DP
type: SiteQuality
SIO_000300: 1.984158e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-1

FS
type: SiteQuality
SIO_000300: 4.465e0

BaseQRankSum
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SIO_000300: 4.28e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4501
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8193
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9273
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.155172413793103e-5
allele num: 46400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.92e0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e0

VQSLOD
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SIO_000300: -8.391999999999999e0

MQ
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SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.8804e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.707e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e0

DP
type: SiteQuality
SIO_000300: 1.984132e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4506
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.07839965491211e-4
allele num: 9273
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6607
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.153501593591179e-5
allele num: 46436
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

FS
type: SiteQuality
SIO_000300: 2.607e0

VQSLOD
type: SiteQuality
SIO_000300: -1.596e-1

DP
type: SiteQuality
SIO_000300: 1.987736e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.833e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.151277859048275e-5
allele num: 46484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8227
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4507
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10079
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9277
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

QD
type: SiteQuality
SIO_000300: 3.019e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.334e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.189e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.988654e6

GenotypeQuality
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bin: 7.25e1
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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4507
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

African
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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: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.150907683042244e-5
allele num: 46492
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.88e0

ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
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African
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e0

MQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.702e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.217730150998539e-4
allele num: 8212
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.156938872352357e-5
allele num: 46362
num of homozygotes: 0

South Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 612
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East Asian
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.866e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

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

African
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 2
allele frequency: 1.988664611713234e-4
allele num: 10057
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Other
type: Population
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.446e0

ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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MQ
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QD
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
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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: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9263
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6605
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.15959399632869e-5
allele num: 46305
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10053
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 1.982992e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.946e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.567e0

FS
type: SiteQuality
SIO_000300: 1.092e0

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e0

QD
type: SiteQuality
SIO_000300: 2.182e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 49

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 2
allele frequency: 2.44140625e-4
allele num: 8192
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.238691568606283e-4
allele num: 9263
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10053
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6607
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 8.875083203905037e-4
allele num: 4507
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 9.723422644770959e-4
allele num: 46280
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.446e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

QD
type: SiteQuality
SIO_000300: 1.622e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 1.984288e6

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

FS
type: SiteQuality
SIO_000300: 1.268e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

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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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4495
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.334539780238833e-5
allele num: 46141
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.355e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.477e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.971766e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e0

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
all individuals: 636
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GenotypeQuality
all individuals: 529
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6605
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.172165866585572e-5
allele num: 46037
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4493
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-1

QD
type: SiteQuality
SIO_000300: 1.591e1

DP
type: SiteQuality
SIO_000300: 1.968212e6

FS
type: SiteQuality
SIO_000300: 2.608e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

GenotypeQuality
all individuals: 5469
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 34
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2475
bin: 8.25e1
variant carriers: 3

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 85
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variant carriers: 3

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 2

African
type: Population
allele count: 3
allele frequency: 3.690036900369004e-4
allele num: 8130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4493
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.26797385620915e-3
allele num: 612
num of homozygotes: 0

Latino
type: Population
allele count: 121
allele frequency: 1.309240424150617e-2
allele num: 9242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6605
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.692681973195473e-4
allele num: 46037
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

QD
type: SiteQuality
SIO_000300: 1.591e1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 2.608e0

DP
type: SiteQuality
SIO_000300: 1.968212e6

GenotypeQuality
all individuals: 1342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
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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
all individuals: 2419
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 813
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2466
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.989012086704625e-5
allele num: 10011
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.357e1

MQ
type: SiteQuality
SIO_000300: 5.878e1

VQSLOD
type: SiteQuality
SIO_000300: -2.752e-1

DP
type: SiteQuality
SIO_000300: 1.946179e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 673
bin: 7.5e0
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 22

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1615
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GenotypeQuality
all individuals: 1208
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 5
allele frequency: 8.210180623973728e-3
allele num: 609
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.18646143082036e-5
allele num: 45736
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 2.100840336134454e-3
allele num: 9996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7997
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4481
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.211e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.55e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.91204e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9989
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 607
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4471
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45644
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.516300227445034e-4
allele num: 6595
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7971
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

FS
type: SiteQuality
SIO_000300: 1.369e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

DP
type: SiteQuality
SIO_000300: 1.906644e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

QD
type: SiteQuality
SIO_000300: 8.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.69e-1

GenotypeQuality
all individuals: 1896
bin: 4.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 38

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 2454
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45540
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 2.807017543859649e-3
allele num: 9975
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.251680034684587e-4
allele num: 9226
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 2.288329519450801e-3
allele num: 7866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 605
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.904021e6

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.96e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.913e0

QD
type: SiteQuality
SIO_000300: 2.146e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

GenotypeQuality
all individuals: 1252
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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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
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GenotypeQuality
all individuals: 351
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GenotypeQuality
all individuals: 2339
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variant carriers: 0

GenotypeQuality
all individuals: 12915
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9219
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7865
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4463
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.196595277320154e-5
allele num: 45525
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.539e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

FS
type: SiteQuality
SIO_000300: 1.8577e1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.412e0

DP
type: SiteQuality
SIO_000300: 1.903904e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.696e1

GenotypeQuality
all individuals: 1953
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45426
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.010050251256281e-4
allele num: 9950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9225
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4455
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.142e1

BaseQRankSum
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SIO_000300: 6.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

GenotypeQuality
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variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 611
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4438
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8363
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9261
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10103
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.132787339774351e-5
allele num: 46887
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.888162e6

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

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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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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4503
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47153
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.187366421277606e-4
allele num: 8422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6613
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9269
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 619
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 8.935e0

DP
type: SiteQuality
SIO_000300: 1.764904e6

QD
type: SiteQuality
SIO_000300: 1.464e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.251e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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bin: 1.25e1
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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GenotypeQuality
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GenotypeQuality
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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: 4212
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.11864406779661e-5
allele num: 47200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6617
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4501
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9287
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.616e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

DP
type: SiteQuality
SIO_000300: 1.766606e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 621
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.118240166070029e-5
allele num: 47209
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4505
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10115
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.674e0

DP
type: SiteQuality
SIO_000300: 1.767705e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 2.821e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 10
allele frequency: 1.075500107550011e-3
allele num: 9298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10115
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4515
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6625
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

FS
type: SiteQuality
SIO_000300: 5.513e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.62e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

DP
type: SiteQuality
SIO_000300: 1.775938e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

Latino
type: Population
allele count: 1
allele frequency: 1.075037626316921e-4
allele num: 9302
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 10119
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6627
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 6.336466363924384e-5
allele num: 47345
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.2e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 10
allele frequency: 2.110773387369132e-4
allele num: 47376
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6627
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9303
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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BaseQRankSum
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MQRankSum
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SIO_000300: -1.0e-1

FS
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 343
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GenotypeQuality
all individuals: 7482
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10120
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African
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allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.109749150825967e-5
allele num: 47399
num of homozygotes: 0

QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.779502e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 4.339e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.831e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6627
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.181334908446545e-4
allele num: 8465
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.10943762392946e-5
allele num: 47406
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4521
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.847e0

FS
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ClippingRankSum
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SIO_000300: -7.9e-2

DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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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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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.508750754375377e-4
allele num: 6628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10121
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8471
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9307
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47456
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
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SIO_000300: 1.031e1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

DP
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SIO_000300: 1.781311e6

BaseQRankSum
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SIO_000300: -4.46e0

FS
type: SiteQuality
SIO_000300: 5.242e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 1
allele frequency: 1.508523155830442e-4
allele num: 6629
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8479
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.105617788259075e-5
allele num: 47492
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10121
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

DP
type: SiteQuality
SIO_000300: 1.782207e6

FS
type: SiteQuality
SIO_000300: 6.261e0

VQSLOD
type: SiteQuality
SIO_000300: -1.142e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8485
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10121
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 3.365162158751525e-4
allele num: 47546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.122e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

DP
type: SiteQuality
SIO_000300: 1.783836e6

VQSLOD
type: SiteQuality
SIO_000300: 1.274e1

FS
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
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SIO_000300: -2.426e0

QD
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SIO_000300: 2.007e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-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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bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47573
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

African
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allele count: 6
allele frequency: 7.069635913750442e-4
allele num: 8487
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.783674e6

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.101502574340654e-5
allele num: 47585
num of homozygotes: 0

Latino
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allele frequency: 1.074229240519927e-4
allele num: 9309
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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DP
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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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African
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East Asian
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.202563563773902e-5
allele num: 47590
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QD
type: SiteQuality
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4522
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Latino
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allele frequency: 2.14799699280421e-4
allele num: 9311
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Other
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East Asian
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allele frequency: 8.296877357067431e-3
allele num: 6629
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47591
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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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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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4522
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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9311
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.884e1

QD
type: SiteQuality
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DP
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MQRankSum
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SIO_000300: -2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.075e0

FS
type: SiteQuality
SIO_000300: 4.055e0

ClippingRankSum
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SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.532e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

GenotypeQuality
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bin: 5.25e1
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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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9311
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.200445247196203e-5
allele num: 47614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 1.781959e6

BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

MQRankSum
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ReadPosRankSum
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SIO_000300: -9.67e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.56e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9311
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)
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allele count: 2
allele frequency: 4.199827807059911e-5
allele num: 47621
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.222e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: -1.18e0

DP
type: SiteQuality
SIO_000300: 1.781933e6

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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bin: 4.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9313
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 6.299212598425197e-4
allele num: 47625
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

DP
type: SiteQuality
SIO_000300: 1.783469e6

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8483
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47625
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.582e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

DP
type: SiteQuality
SIO_000300: 1.780504e6

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.396e1

FS
type: SiteQuality
SIO_000300: 8.130000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

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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variant carriers: 13

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47627
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8483
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.395898206807688e-3
allele num: 9313
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 5.38e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9313
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.100090303883067e-5
allele num: 47617
num of homozygotes: 0

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

MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.1e-3

MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9313
num of homozygotes: 0

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

Other
type: Population
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South Asian
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allele frequency: 9.879470460383324e-5
allele num: 10122
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47616
num of homozygotes: 0

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

East Asian
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allele num: 6628
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47615
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9309
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.180776951233912e-4
allele num: 8469
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

FS
type: SiteQuality
SIO_000300: 7.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.777995e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.036e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8477
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.298154640690278e-5
allele num: 47633
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.077e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.777454e6

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.86e-2

QD
type: SiteQuality
SIO_000300: 1.648e1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.099517111064455e-5
allele num: 47630
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -8.721e-1

DP
type: SiteQuality
SIO_000300: 1.777499e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 3.835e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 1.131e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.198064692176906e-5
allele num: 47641
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8473
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10121
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.422821760283061e-4
allele num: 4522
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.592356687898089e-3
allele num: 628
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.03e-2

QD
type: SiteQuality
SIO_000300: 1.551e1

MQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 3.271e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.777299e6

GenotypeQuality
all individuals: 44
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6627
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.179801793298726e-4
allele num: 8476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9305
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.072e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

DP
type: SiteQuality
SIO_000300: 1.77689e6

QD
type: SiteQuality
SIO_000300: 1.583e1

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
all individuals: 40570
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9307
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.099076406381192e-5
allele num: 47640
num of homozygotes: 0

African
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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
allele num: 6629
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 1.776917e6

QD
type: SiteQuality
SIO_000300: 3.23e1

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

Latino
type: Population
allele count: 1
allele frequency: 1.074229240519927e-4
allele num: 9309
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8479
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47646
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VQSLOD
type: SiteQuality
SIO_000300: -1.288e0

QD
type: SiteQuality
SIO_000300: 1.365e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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African
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allele count: 101
allele frequency: 1.191178204977002e-2
allele num: 8479
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.197624144734081e-5
allele num: 47646
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 9.668063164679343e-4
allele num: 9309
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.133e1

FS
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.738e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.780205e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.098900176307615e-5
allele num: 47644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
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Latino
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allele num: 9309
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East Asian
type: Population
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African
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allele count: 33
allele frequency: 3.893805309734513e-3
allele num: 8475
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South Asian
type: Population
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Other
type: Population
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

InbreedingCoeff
type: SiteQuality
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MQ
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SIO_000300: 5.939e1

QD
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
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South Asian
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.889010158676853e-4
allele num: 47644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9309
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.332e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 1.775694e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.666e1

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8477
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9307
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47640
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.772354e6

VQSLOD
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

QD
type: SiteQuality
SIO_000300: 3.246e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40649
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8475
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.049450088153807e-4
allele num: 47644
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.148920167615773e-4
allele num: 9307
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6625
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10121
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.772939e6

FS
type: SiteQuality
SIO_000300: 1.773e0

QD
type: SiteQuality
SIO_000300: 1.693e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

GenotypeQuality
all individuals: 40726
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10119
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47659
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.179384361363368e-4
allele num: 8479
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9307
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.571e1

MQ
type: SiteQuality
SIO_000300: 5.82e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.772201e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.151e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -2.159e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.464e0

GenotypeQuality
all individuals: 2277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3994
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.017046311660884e-4
allele num: 6629
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8477
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9307
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.771783e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.344e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 2.987e0

QD
type: SiteQuality
SIO_000300: 1.418e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.13e-1

GenotypeQuality
all individuals: 1462
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 9.75e1
variant carriers: 42

GenotypeQuality
all individuals: 2297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2278
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40675
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.359325232983367e-4
allele num: 8477
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10125
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 9.233416573982751e-4
allele num: 47653
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6625
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9305
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.316e-1

QD
type: SiteQuality
SIO_000300: 1.887e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e1

FS
type: SiteQuality
SIO_000300: 1.108e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.773399e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3967
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6623
num of homozygotes: 0