4-1332433-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332433
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332433
    reference: chr 4
allele count: 1
allele frequency: 2.774540813495367e-5
allele num: 36042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+28G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+28G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+28G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+28G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+28G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+28G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+28G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3880G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+28G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+28G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+28G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+28G>C
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

4-1332222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332222
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332222
    reference: chr 4
allele count: 1
allele frequency: 8.420910805712745e-6
allele num: 118752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.909G>A
  hgvsp: ENST00000510794.1:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1026G>A
  hgvsp: ENST00000505177.2:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1203G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.846G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.708G>A
  hgvsp: ENST00000514708.1:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1879G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.675G>A
  hgvsp: ENST00000452175.2:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.768G>A
  hgvsp: ENST00000505839.1:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3669G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.712G>A
  hgvsp: ENSP00000426966.1:p.Gly238Arg
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.789G>A
  hgvsp: ENST00000264750.6:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.912G>A
  hgvsp: ENST00000303400.4:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17376
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly238Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

4-1332225-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332225
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332225
    reference: chr 4
allele count: 1
allele frequency: 8.411136344520145e-6
allele num: 118890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.678G>T
  hgvsp: ENSP00000411415.2:p.Glu226Asp
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.711G>T
  hgvsp: ENSP00000427512.1:p.Glu237Asp
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1029G>T
  hgvsp: ENSP00000422215.2:p.Glu343Asp
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.792G>T
  hgvsp: ENSP00000264750.6:p.Glu264Asp
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.912G>T
  hgvsp: ENSP00000426807.1:p.Glu304Asp
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.771G>T
  hgvsp: ENSP00000424436.1:p.Glu257Asp
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.915G>T
  hgvsp: ENSP00000302830.4:p.Glu305Asp
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.849G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1882G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.715G>T
  hgvsp: ENSP00000426966.1:p.Gly239Ter
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1206G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3672G>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly239Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

4-1332233-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332233
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332233
    reference: chr 4
allele count: 1
allele frequency: 8.391655337931961e-6
allele num: 119166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.800G>C
  hgvsp: ENSP00000264750.6:p.Ser267Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.719G>C
  hgvsp: ENSP00000427512.1:p.Ser240Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.923G>C
  hgvsp: ENSP00000302830.4:p.Ser308Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.723G>C
  hgvsp: ENSP00000426966.1:p.Gln241His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1214G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3680G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.920G>C
  hgvsp: ENSP00000426807.1:p.Ser307Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.686G>C
  hgvsp: ENSP00000411415.2:p.Ser229Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.857G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.779G>C
  hgvsp: ENSP00000424436.1:p.Ser260Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1890G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1037G>C
  hgvsp: ENSP00000422215.2:p.Ser346Thr
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser308Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

4-1332234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332234
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332234
    reference: chr 4
allele count: 16
allele frequency: 1.342462075446369e-4
allele num: 119184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1215C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.724C>T
  hgvsp: ENSP00000426966.1:p.Leu242Phe
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3681C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1038C>T
  hgvsp: ENST00000505177.2:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.780C>T
  hgvsp: ENST00000505839.1:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.687C>T
  hgvsp: ENST00000452175.2:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.858C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.921C>T
  hgvsp: ENST00000510794.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.924C>T
  hgvsp: ENST00000303400.4:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1891C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.720C>T
  hgvsp: ENST00000514708.1:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.801C>T
  hgvsp: ENST00000264750.6:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu242Phe
num of homozygotes: 1
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

4-1332255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332255
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332255
    reference: chr 4
allele count: 3
allele frequency: 2.511174727537542e-5
allele num: 119466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.822T>C
  hgvsp: ENST00000264750.6:c.822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.741T>C
  hgvsp: ENST00000514708.1:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.942T>C
  hgvsp: ENST00000510794.1:c.942T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1912T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.945T>C
  hgvsp: ENST00000303400.4:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.879T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.801T>C
  hgvsp: ENST00000505839.1:c.801T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1059T>C
  hgvsp: ENST00000505177.2:c.1059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.708T>C
  hgvsp: ENST00000452175.2:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1236T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3702T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro315Pro
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-1332265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332265
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332265
    reference: chr 4
allele count: 4
allele frequency: 3.347784603538608e-5
allele num: 119482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.832C>T
  hgvsp: ENSP00000264750.6:p.Arg278Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.811C>T
  hgvsp: ENSP00000424436.1:p.Arg271Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.718C>T
  hgvsp: ENSP00000411415.2:p.Arg240Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1246C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.751C>T
  hgvsp: ENSP00000427512.1:p.Arg251Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3712C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1922C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.952C>T
  hgvsp: ENSP00000426807.1:p.Arg318Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1069C>T
  hgvsp: ENSP00000422215.2:p.Arg357Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.955C>T
  hgvsp: ENSP00000302830.4:p.Arg319Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.889C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg319Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

4-1332266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332266
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332266
    reference: chr 4
allele count: 4
allele frequency: 3.34744840745142e-5
allele num: 119494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.953G>A
  hgvsp: ENSP00000426807.1:p.Arg318His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1923G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1247G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.719G>A
  hgvsp: ENSP00000411415.2:p.Arg240His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3713G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1070G>A
  hgvsp: ENSP00000422215.2:p.Arg357His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.812G>A
  hgvsp: ENSP00000424436.1:p.Arg271His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.890G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.833G>A
  hgvsp: ENSP00000264750.6:p.Arg278His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.956G>A
  hgvsp: ENSP00000302830.4:p.Arg319His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.752G>A
  hgvsp: ENSP00000427512.1:p.Arg251His
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg319His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

4-1332267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332267
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332267
    reference: chr 4
allele count: 1
allele frequency: 8.367780697203488e-6
allele num: 119506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.957C>T
  hgvsp: ENST00000303400.4:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.834C>T
  hgvsp: ENST00000264750.6:c.834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1071C>T
  hgvsp: ENST00000505177.2:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.720C>T
  hgvsp: ENST00000452175.2:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.753C>T
  hgvsp: ENST00000514708.1:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1248C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1924C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3714C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.891C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.813C>T
  hgvsp: ENST00000505839.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.954C>T
  hgvsp: ENST00000510794.1:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg319Arg
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: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

4-1332270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332270
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332270
    reference: chr 4
allele count: 3
allele frequency: 2.510502267820382e-5
allele num: 119498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.837C>T
  hgvsp: ENST00000264750.6:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*22C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.894C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1927C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.816C>T
  hgvsp: ENST00000505839.1:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1074C>T
  hgvsp: ENST00000505177.2:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.957C>T
  hgvsp: ENST00000510794.1:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3717C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.723C>T
  hgvsp: ENST00000452175.2:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1251C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.756C>T
  hgvsp: ENST00000514708.1:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.960C>T
  hgvsp: ENST00000303400.4:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser320Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

4-1332273-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332273
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332273
    reference: chr 4
allele count: 1
allele frequency: 8.371563473194253e-6
allele num: 119452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.960G>A
  hgvsp: ENST00000510794.1:c.960G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.819G>A
  hgvsp: ENST00000505839.1:c.819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.897G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.840G>A
  hgvsp: ENST00000264750.6:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3720G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1077G>A
  hgvsp: ENST00000505177.2:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1254G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.759G>A
  hgvsp: ENST00000514708.1:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1930G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.963G>A
  hgvsp: ENST00000303400.4:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.726G>A
  hgvsp: ENST00000452175.2:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu321Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

4-1332285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332285
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332285
    reference: chr 4
allele count: 1
allele frequency: 8.394191219675984e-6
allele num: 119130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.831G>A
  hgvsp: ENST00000505839.1:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.852G>A
  hgvsp: ENST00000264750.6:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3732G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.738G>A
  hgvsp: ENST00000452175.2:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1942G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.972G>A
  hgvsp: ENST00000510794.1:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.909G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1266G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.771G>A
  hgvsp: ENST00000514708.1:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.975G>A
  hgvsp: ENST00000303400.4:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1089G>A
  hgvsp: ENST00000505177.2:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala325Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-1332290-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332290
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332290
    reference: chr 4
allele count: 1
allele frequency: 8.374648264772879e-6
allele num: 119408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1947C>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.980C>A
  hgvsp: ENSP00000302830.4:p.Pro327His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1271C>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.857C>A
  hgvsp: ENSP00000264750.6:p.Pro286His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3737C>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.836C>A
  hgvsp: ENSP00000424436.1:p.Pro279His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.776C>A
  hgvsp: ENSP00000427512.1:p.Pro259His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.977C>A
  hgvsp: ENSP00000426807.1:p.Pro326His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1094C>A
  hgvsp: ENSP00000422215.2:p.Pro365His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.914C>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.743C>A
  hgvsp: ENSP00000411415.2:p.Pro248His
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*42C>A
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro327His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

4-1332291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332291
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332291
    reference: chr 4
allele count: 5
allele frequency: 4.187674835424379e-5
allele num: 119398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.837C>T
  hgvsp: ENST00000505839.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.981C>T
  hgvsp: ENST00000303400.4:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.915C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.978C>T
  hgvsp: ENST00000510794.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1272C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3738C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1948C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.744C>T
  hgvsp: ENST00000452175.2:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.858C>T
  hgvsp: ENST00000264750.6:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.777C>T
  hgvsp: ENST00000514708.1:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1095C>T
  hgvsp: ENST00000505177.2:c.1095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro327Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-1332292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332292
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332292
    reference: chr 4
allele count: 140
allele frequency: 1.172509673204804e-3
allele num: 119402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.778C>T
  hgvsp: ENST00000514708.1:c.778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1096C>T
  hgvsp: ENST00000505177.2:c.1096C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.982C>T
  hgvsp: ENST00000303400.4:c.982C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.979C>T
  hgvsp: ENST00000510794.1:c.979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.745C>T
  hgvsp: ENST00000452175.2:c.745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.916C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.838C>T
  hgvsp: ENST00000505839.1:c.838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.859C>T
  hgvsp: ENST00000264750.6:c.859C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3739C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1949C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1273C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 17402
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Leu328Leu
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-1332309-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332309
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332309
    reference: chr 4
allele count: 1
allele frequency: 8.390810384466932e-6
allele num: 119178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3756T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.795T>C
  hgvsp: ENST00000514708.1:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.999T>C
  hgvsp: ENST00000303400.4:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.876T>C
  hgvsp: ENST00000264750.6:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1966T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1113T>C
  hgvsp: ENST00000505177.2:c.1113T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*61T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.933T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.762T>C
  hgvsp: ENST00000452175.2:c.762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1290T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.855T>C
  hgvsp: ENST00000505839.1:c.855T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.996T>C
  hgvsp: ENST00000510794.1:c.996T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys333Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

4-1332316-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332316
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332316
    reference: chr 4
allele count: 1
allele frequency: 8.413542437908056e-6
allele num: 118856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1120T>G
  hgvsp: ENSP00000422215.2:p.Ser374Ala
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*68T>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1973T>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.802T>G
  hgvsp: ENSP00000427512.1:p.Ser268Ala
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.940T>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.883T>G
  hgvsp: ENSP00000264750.6:p.Ser295Ala
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1003T>G
  hgvsp: ENSP00000426807.1:p.Ser335Ala
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1006T>G
  hgvsp: ENSP00000302830.4:p.Ser336Ala
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.862T>G
  hgvsp: ENSP00000424436.1:p.Ser288Ala
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.769T>G
  hgvsp: ENSP00000411415.2:p.Ser257Ala
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3763T>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1297T>G
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17790
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser336Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

4-1332327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332327
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332327
    reference: chr 4
allele count: 1
allele frequency: 8.440813019110001e-6
allele num: 118472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.894C>T
  hgvsp: ENST00000264750.6:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1308C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3774C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.813C>T
  hgvsp: ENST00000514708.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*79C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1131C>T
  hgvsp: ENST00000505177.2:c.1131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1984C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.780C>T
  hgvsp: ENST00000452175.2:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.873C>T
  hgvsp: ENST00000505839.1:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1014C>T
  hgvsp: ENST00000510794.1:c.1014C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1017C>T
  hgvsp: ENST00000303400.4:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.951C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30643
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val339Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

4-1332330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332330
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332330
    reference: chr 4
allele count: 2
allele frequency: 1.692276450280918e-5
allele num: 118184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.954C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.897C>T
  hgvsp: ENST00000264750.6:c.897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*82C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.783C>T
  hgvsp: ENST00000452175.2:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.816C>T
  hgvsp: ENST00000514708.1:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1020C>T
  hgvsp: ENST00000303400.4:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1311C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.876C>T
  hgvsp: ENST00000505839.1:c.876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1134C>T
  hgvsp: ENST00000505177.2:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3777C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1987C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1017C>T
  hgvsp: ENST00000510794.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys340Cys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

4-1332333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332333
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332333
    reference: chr 4
allele count: 1
allele frequency: 8.523405270873819e-6
allele num: 117324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.819G>A
  hgvsp: ENST00000514708.1:c.819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.900G>A
  hgvsp: ENST00000264750.6:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1020G>A
  hgvsp: ENST00000510794.1:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.879G>A
  hgvsp: ENST00000505839.1:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1137G>A
  hgvsp: ENST00000505177.2:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1314G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3780G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*85G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1023G>A
  hgvsp: ENST00000303400.4:c.1023G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.786G>A
  hgvsp: ENST00000452175.2:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1990G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.957G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys341Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

4-1332338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332338
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332338
    reference: chr 4
allele count: 1
allele frequency: 8.565750702391558e-6
allele num: 116744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1025C>T
  hgvsp: ENSP00000426807.1:p.Ser342Phe
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1142C>T
  hgvsp: ENSP00000422215.2:p.Ser381Phe
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.905C>T
  hgvsp: ENSP00000264750.6:p.Ser302Phe
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3785C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1028C>T
  hgvsp: ENSP00000302830.4:p.Ser343Phe
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.824C>T
  hgvsp: ENSP00000427512.1:p.Ser275Phe
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.962C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1995C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.884C>T
  hgvsp: ENSP00000424436.1:p.Ser295Phe
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1319C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.791C>T
  hgvsp: ENSP00000411415.2:p.Ser264Phe
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser343Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

4-1332339-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332339
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332339
    reference: chr 4
allele count: 1
allele frequency: 8.579566903462713e-6
allele num: 116556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.963T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1143T>C
  hgvsp: ENST00000505177.2:c.1143T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.885T>C
  hgvsp: ENST00000505839.1:c.885T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1026T>C
  hgvsp: ENST00000510794.1:c.1026T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1320T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1029T>C
  hgvsp: ENST00000303400.4:c.1029T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1996T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.906T>C
  hgvsp: ENST00000264750.6:c.906T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*91T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.825T>C
  hgvsp: ENST00000514708.1:c.825T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3786T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.792T>C
  hgvsp: ENST00000452175.2:c.792T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser343Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

4-1332342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332342
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332342
    reference: chr 4
allele count: 3
allele frequency: 2.587947067855972e-5
allele num: 115922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1029C>T
  hgvsp: ENST00000510794.1:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*94C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.966C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3789C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1032C>T
  hgvsp: ENST00000303400.4:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.828C>T
  hgvsp: ENST00000514708.1:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.888C>T
  hgvsp: ENST00000505839.1:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1323C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.795C>T
  hgvsp: ENST00000452175.2:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.909C>T
  hgvsp: ENST00000264750.6:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1146C>T
  hgvsp: ENST00000505177.2:c.1146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.1999C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly344Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

4-1332343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332343
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332343
    reference: chr 4
allele count: 1
allele frequency: 8.643191757852339e-6
allele num: 115698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*95G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.829G>A
  hgvsp: ENSP00000427512.1:p.Asp277Asn
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.910G>A
  hgvsp: ENSP00000264750.6:p.Asp304Asn
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.889G>A
  hgvsp: ENSP00000424436.1:p.Asp297Asn
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.967G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1033G>A
  hgvsp: ENSP00000302830.4:p.Asp345Asn
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1147G>A
  hgvsp: ENSP00000422215.2:p.Asp383Asn
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1030G>A
  hgvsp: ENSP00000426807.1:p.Asp344Asn
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1324G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.796G>A
  hgvsp: ENSP00000411415.2:p.Asp266Asn
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3790G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2000G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp345Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

4-1332345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332345
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332345
    reference: chr 4
allele count: 3
allele frequency: 2.614014603628252e-5
allele num: 114766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1032C>T
  hgvsp: ENST00000510794.1:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.912C>T
  hgvsp: ENST00000264750.6:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.798C>T
  hgvsp: ENST00000452175.2:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.969C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.891C>T
  hgvsp: ENST00000505839.1:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1326C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1149C>T
  hgvsp: ENST00000505177.2:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2002C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1035C>T
  hgvsp: ENST00000303400.4:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*97C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.831C>T
  hgvsp: ENST00000514708.1:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3792C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp345Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

4-1332346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332346
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332346
    reference: chr 4
allele count: 2
allele frequency: 1.743344781297397e-5
allele num: 114722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.832G>A
  hgvsp: ENSP00000427512.1:p.Val278Met
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.970G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3793G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.799G>A
  hgvsp: ENSP00000411415.2:p.Val267Met
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.913G>A
  hgvsp: ENSP00000264750.6:p.Val305Met
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1327G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1150G>A
  hgvsp: ENSP00000422215.2:p.Val384Met
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.892G>A
  hgvsp: ENSP00000424436.1:p.Val298Met
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1036G>A
  hgvsp: ENSP00000302830.4:p.Val346Met
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*98G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2003G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1033G>A
  hgvsp: ENSP00000426807.1:p.Val345Met
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18415
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val346Met
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: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

4-1332350-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332350
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332350
    reference: chr 4
allele count: 1
allele frequency: 8.795384182381086e-6
allele num: 113696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2007T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3797T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1154T>C
  hgvsp: ENSP00000422215.2:p.Met385Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.836T>C
  hgvsp: ENSP00000427512.1:p.Met279Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.917T>C
  hgvsp: ENSP00000264750.6:p.Met306Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.803T>C
  hgvsp: ENSP00000411415.2:p.Met268Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1040T>C
  hgvsp: ENSP00000302830.4:p.Met347Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.974T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1037T>C
  hgvsp: ENSP00000426807.1:p.Met346Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.896T>C
  hgvsp: ENSP00000424436.1:p.Met299Thr
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*102T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1331T>C
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met347Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

4-1332354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332354
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332354
    reference: chr 4
allele count: 5
allele frequency: 4.476997188445766e-5
allele num: 111682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1335C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.840C>T
  hgvsp: ENST00000514708.1:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.921C>T
  hgvsp: ENST00000264750.6:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1158C>T
  hgvsp: ENST00000505177.2:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.807C>T
  hgvsp: ENST00000452175.2:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.900C>T
  hgvsp: ENST00000505839.1:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1044C>T
  hgvsp: ENST00000303400.4:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2011C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3801C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.978C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1041C>T
  hgvsp: ENST00000510794.1:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn348Asn
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

4-1332356-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332356
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332356
    reference: chr 4
allele count: 1
allele frequency: 9.021199819576003e-6
allele num: 110850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1160A>G
  hgvsp: ENSP00000422215.2:p.Glu387Gly
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1337A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2013A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.809A>G
  hgvsp: ENSP00000411415.2:p.Glu270Gly
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.980A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1043A>G
  hgvsp: ENSP00000426807.1:p.Glu348Gly
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*108A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.923A>G
  hgvsp: ENSP00000264750.6:p.Glu308Gly
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.902A>G
  hgvsp: ENSP00000424436.1:p.Glu301Gly
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.842A>G
  hgvsp: ENSP00000427512.1:p.Glu281Gly
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3803A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1046A>G
  hgvsp: ENSP00000302830.4:p.Glu349Gly
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24861
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu349Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

4-1332357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332357
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332357
    reference: chr 4
allele count: 1
allele frequency: 9.06240371196056e-6
allele num: 110346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1338G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3804G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.981G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.924G>A
  hgvsp: ENST00000264750.6:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1047G>A
  hgvsp: ENST00000303400.4:c.1047G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2014G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.810G>A
  hgvsp: ENST00000452175.2:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.903G>A
  hgvsp: ENST00000505839.1:c.903G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1161G>A
  hgvsp: ENST00000505177.2:c.1161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.843G>A
  hgvsp: ENST00000514708.1:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1044G>A
  hgvsp: ENST00000510794.1:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu349Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

4-1332362-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332362
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332362
    reference: chr 4
allele count: 1
allele frequency: 9.26251829347363e-6
allele num: 107962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.986A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.908A>G
  hgvsp: ENSP00000424436.1:p.Asn303Ser
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.848A>G
  hgvsp: ENSP00000427512.1:p.Asn283Ser
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2019A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*114A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1049A>G
  hgvsp: ENSP00000426807.1:p.Asn350Ser
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1166A>G
  hgvsp: ENSP00000422215.2:p.Asn389Ser
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.929A>G
  hgvsp: ENSP00000264750.6:p.Asn310Ser
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1052A>G
  hgvsp: ENSP00000302830.4:p.Asn351Ser
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.815A>G
  hgvsp: ENSP00000411415.2:p.Asn272Ser
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3809A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1343A>G
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17289
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn351Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

4-1332366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332366
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332366
    reference: chr 4
allele count: 2
allele frequency: 1.903927803057708e-5
allele num: 105046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.933G>A
  hgvsp: ENST00000264750.6:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1170G>A
  hgvsp: ENST00000505177.2:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1056G>A
  hgvsp: ENST00000303400.4:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1053G>A
  hgvsp: ENST00000510794.1:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2023G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.852G>A
  hgvsp: ENST00000514708.1:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3813G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.819G>A
  hgvsp: ENST00000452175.2:c.819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.912G>A
  hgvsp: ENST00000505839.1:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*118G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.990G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1347G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20829
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro352Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-1332384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332384
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332384
    reference: chr 4
allele count: 4
allele frequency: 4.478681476173414e-5
allele num: 89312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1074C>T
  hgvsp: ENST00000303400.4:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.837C>T
  hgvsp: ENST00000452175.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2041C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.930C>T
  hgvsp: ENST00000505839.1:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3831C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1071C>T
  hgvsp: ENST00000510794.1:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.870C>T
  hgvsp: ENST00000514708.1:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1365C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1188C>T
  hgvsp: ENST00000505177.2:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.951C>T
  hgvsp: ENST00000264750.6:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*136C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1008C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn358Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

4-1332387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332387
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332387
    reference: chr 4
allele count: 1
allele frequency: 1.206389036336438e-5
allele num: 82892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*139C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.933C>T
  hgvsp: ENST00000505839.1:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1077C>T
  hgvsp: ENST00000303400.4:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2044C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1011C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1074C>T
  hgvsp: ENST00000510794.1:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1191C>T
  hgvsp: ENST00000505177.2:c.1191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.840C>T
  hgvsp: ENST00000452175.2:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.954C>T
  hgvsp: ENST00000264750.6:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1368C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3834C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.873C>T
  hgvsp: ENST00000514708.1:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly359Gly
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

4-1332389-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332389
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332389
    reference: chr 4
allele count: 1
allele frequency: 1.220196695707348e-5
allele num: 81954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1076A>G
  hgvsp: ENSP00000426807.1:p.Tyr359Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1193A>G
  hgvsp: ENSP00000422215.2:p.Tyr398Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2046A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1013A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*141A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1370A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.956A>G
  hgvsp: ENSP00000264750.6:p.Tyr319Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.935A>G
  hgvsp: ENSP00000424436.1:p.Tyr312Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1079A>G
  hgvsp: ENSP00000302830.4:p.Tyr360Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.875A>G
  hgvsp: ENSP00000427512.1:p.Tyr292Cys
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3836A>G
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.842A>G
  hgvsp: ENSP00000411415.2:p.Tyr281Cys
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr360Cys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

4-1332390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332390
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332390
    reference: chr 4
allele count: 1
allele frequency: 1.239987104134117e-5
allele num: 80646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2047C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1371C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1080C>T
  hgvsp: ENST00000303400.4:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.957C>T
  hgvsp: ENST00000264750.6:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1194C>T
  hgvsp: ENST00000505177.2:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1077C>T
  hgvsp: ENST00000510794.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1014C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.936C>T
  hgvsp: ENST00000505839.1:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.843C>T
  hgvsp: ENST00000452175.2:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3837C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.876C>T
  hgvsp: ENST00000514708.1:c.876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr360Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

4-1332396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332396
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332396
    reference: chr 4
allele count: 12
allele frequency: 1.607028069423613e-4
allele num: 74672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.942C>T
  hgvsp: ENST00000505839.1:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.882C>T
  hgvsp: ENST00000514708.1:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1200C>T
  hgvsp: ENST00000505177.2:c.1200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1086C>T
  hgvsp: ENST00000303400.4:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.963C>T
  hgvsp: ENST00000264750.6:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.849C>T
  hgvsp: ENST00000452175.2:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2053C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1377C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1020C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3843C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*148C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1083C>T
  hgvsp: ENST00000510794.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20157
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19906
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr362Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

4-1332406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332406
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332406
    reference: chr 4
allele count: 1
allele frequency: 1.525273786644703e-5
allele num: 65562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+1G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+1G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+1G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+1G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+1G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+1G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+1G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+1G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+1G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3853G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+1G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+1G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1095+1G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

4-1332407-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332407
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332405
    reference: chr 4
allele count: 2
allele frequency: 3.104144032283098e-5
allele num: 64430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+4_1092+5delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+4_972+5delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+4_1095+5delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+4_858+5delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+4_*157+5delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+4_1209+5delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+4_951+5delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+4_891+5delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+4_2062+5delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+4_1386+5delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3856_3857delAG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+4_1029+5delAG
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20753
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1095+4_1095+5delAG
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: TGA
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

4-1332408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332408
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332408
    reference: chr 4
allele count: 1
allele frequency: 1.600922131147541e-5
allele num: 62464
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+3G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+3G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+3G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+3G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+3G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+3G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+3G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3855G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+3G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+3G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+3G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+3G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20729
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1095+3G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

4-1332411-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332411
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332411
    reference: chr 4
allele count: 1
allele frequency: 1.680051073552636e-5
allele num: 59522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+6G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+6G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+6G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+6G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+6G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+6G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+6G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+6G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3858G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+6G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+6G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+6G>C
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1095+6G>C
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

4-1332411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332411
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332411
    reference: chr 4
allele count: 1
allele frequency: 1.680051073552636e-5
allele num: 59522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+6G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+6G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+6G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+6G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+6G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3858G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+6G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+6G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+6G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+6G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+6G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+6G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1095+6G>A
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

4-1332412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332412
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332412
    reference: chr 4
allele count: 14
allele frequency: 2.393980848153215e-4
allele num: 58480
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+7G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+7G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+7G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+7G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+7G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+7G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+7G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3859G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+7G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+7G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+7G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+7G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23226
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20278
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1095+7G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

4-1332412-GGGGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332412
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332407
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 58480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+16_1386+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+16_972+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+16_951+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+16_1095+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+16_2062+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+16_1029+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+16_891+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+16_1092+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+16_1209+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3868_3872delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+16_*157+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+16_858+20delCAGGG
  variant of: http://identifiers.org/hgnc/13731
canonical: true
consequence: splice region
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23226
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1095+16_1095+20delCAGGG
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: GGGGCA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

4-1332414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332414
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332414
    reference: chr 4
allele count: 2
allele frequency: 3.687043728338618e-5
allele num: 54244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+9G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+9G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+9G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+9G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3861G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+9G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+9G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+9G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+9G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+9G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+9G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+9G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

4-1332415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332415
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332415
    reference: chr 4
allele count: 6
allele frequency: 1.113916530521313e-4
allele num: 53864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3862G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+10G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+10G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+10G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+10G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+10G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+10G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+10G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+10G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+10G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+10G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+10G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19375
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23769
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

4-1332426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332426
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332426
    reference: chr 4
allele count: 6
allele frequency: 1.461062679588954e-4
allele num: 41066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3873G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+21G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+21G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+21G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+21G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+21G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+21G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+21G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+21G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+21G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+21G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+21G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24606
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16097
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

4-1332427-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332427
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332427
    reference: chr 4
allele count: 2
allele frequency: 4.9982506122857e-5
allele num: 40014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+22G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+22G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+22G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3874G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+22G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+22G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+22G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+22G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+22G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+22G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+22G>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+22G>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

4-1332440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332440
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332440
    reference: chr 4
allele count: 2
allele frequency: 6.763154335181928e-5
allele num: 29572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+35C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+35C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3887C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+35C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+35C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+35C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+35C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+35C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+35C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+35C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+35C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+35C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24672
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

4-1332441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332441
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332441
    reference: chr 4
allele count: 1
allele frequency: 3.497971176717504e-5
allele num: 28588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+36G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3888G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+36G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+36G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+36G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+36G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+36G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+36G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+36G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+36G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+36G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+36G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24833
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11543
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

4-1332445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332445
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332445
    reference: chr 4
allele count: 2
allele frequency: 8.298755186721991e-5
allele num: 24100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+40C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+40C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+40C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+40C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+40C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3892C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+40C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+40C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+40C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+40C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+40C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+40C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

4-1332446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332446
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332446
    reference: chr 4
allele count: 3
allele frequency: 1.270540403184821e-4
allele num: 23612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+41G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+41G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+41G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+41G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+41G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+41G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3893G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+41G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+41G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+41G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+41G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+41G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20346
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26086
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

4-1332448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332448
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332448
    reference: chr 4
allele count: 2
allele frequency: 8.898380494749955e-5
allele num: 22476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3895C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+43C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+43C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8764
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-1332451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332451
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332451
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 20298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+46C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+46C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+46C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+46C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+46C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3898C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+46C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+46C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+46C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+46C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+46C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+46C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27062
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

4-1332452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332452
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332452
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 20646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1029+47G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1092+47G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.951+47G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2062+47G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.3899G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.891+47G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1209+47G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1095+47G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.858+47G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.972+47G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1386+47G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*157+47G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27094
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

4-1332817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332817
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332817
    reference: chr 4
allele count: 4
allele frequency: 3.407329165033988e-5
allele num: 117394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-45C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-45C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4264C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-45C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-45C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-45C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-45C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-45C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-45C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-45C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-45C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-45C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16332
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-1332818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332818
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332818
    reference: chr 4
allele count: 33
allele frequency: 2.808415032679738e-4
allele num: 117504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-44G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-44G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-44G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-44G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-44G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-44G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-44G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-44G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4265G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-44G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-44G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-44G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14153
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7569
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17716
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

4-1332826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332826
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332826
    reference: chr 4
allele count: 2
allele frequency: 1.699466367560586e-5
allele num: 117684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-36C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-36C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-36C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-36C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-36C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-36C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4273C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-36C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-36C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-36C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-36C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-36C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

4-1332827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332827
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332827
    reference: chr 4
allele count: 1
allele frequency: 8.4888202237653e-6
allele num: 117802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-35G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-35G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-35G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-35G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-35G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-35G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-35G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-35G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-35G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4274G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-35G>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-35G>A
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-1332831-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332831
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332831
    reference: chr 4
allele count: 2
allele frequency: 1.690274162469152e-5
allele num: 118324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-31G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-31G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-31G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-31G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-31G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-31G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-31G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-31G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-31G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4278G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-31G>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-31G>C
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

4-1332834-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332834
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332834
    reference: chr 4
allele count: 1
allele frequency: 8.419776370739593e-6
allele num: 118768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-28T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4281T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-28T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-28T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-28T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-28T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-28T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-28T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-28T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-28T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-28T>A
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-28T>A
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

4-1332842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332842
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332842
    reference: chr 4
allele count: 1
allele frequency: 8.3462700519138e-6
allele num: 119814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-20T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4289T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-20T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-20T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-20T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-20T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-20T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-20T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-20T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-20T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-20T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-20T>C
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

4-1332843-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332843
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332843
    reference: chr 4
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4290T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-19T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-19T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-19T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-19T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-19T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-19T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-19T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-19T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-19T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-19T>C
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-19T>C
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

4-1332844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332844
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332844
    reference: chr 4
allele count: 10
allele frequency: 8.335834083558401e-5
allele num: 119964
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-18C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-18C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-18C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-18C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-18C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4291C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-18C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-18C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-18C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-18C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-18C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-18C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16973
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25664
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

4-1332845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332845
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332845
    reference: chr 4
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4292C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-17C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-17C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

4-1332846-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332846
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332847
    reference: chr 4
allele count: 2
allele frequency: 1.6654730776277e-5
allele num: 120086
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-14dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-14dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-14dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-14dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-14dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-14dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-14dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-14dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-14dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4295dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-14dupG
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-14dupG
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

4-1332846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1332846
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1332846
    reference: chr 4
allele count: 4
allele frequency: 3.3309461552554e-5
allele num: 120086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426966
  ensembl transcript: ENST00000509531
  gene symbol: MAEA
  hgvsc: ENST00000509531.1:c.*158-16C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000427512
  ensembl transcript: ENST00000514708
  gene symbol: MAEA
  hgvsc: ENST00000514708.1:c.892-16C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000426807
  ensembl transcript: ENST00000510794
  gene symbol: MAEA
  hgvsc: ENST00000510794.1:c.1093-16C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000411415
  ensembl transcript: ENST00000452175
  gene symbol: MAEA
  hgvsc: ENST00000452175.2:c.859-16C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000302830
  ensembl transcript: ENST00000303400
  gene symbol: MAEA
  hgvsc: ENST00000303400.4:c.1096-16C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000264750
  ensembl transcript: ENST00000264750
  gene symbol: MAEA
  hgvsc: ENST00000264750.6:c.973-16C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000506530
  gene symbol: MAEA
  hgvsc: ENST00000506530.1:n.4293C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000422215
  ensembl transcript: ENST00000505177
  gene symbol: MAEA
  hgvsc: ENST00000505177.2:c.1210-16C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000515766
  gene symbol: MAEA
  hgvsc: ENST00000515766.1:n.2063-16C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl protein: ENSP00000424436
  ensembl transcript: ENST00000505839
  gene symbol: MAEA
  hgvsc: ENST00000505839.1:c.952-16C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000503162
  gene symbol: MAEA
  hgvsc: ENST00000503162.1:n.1030-16C>T
  variant of: http://identifiers.org/hgnc/13731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090316
  ensembl transcript: ENST00000512289
  gene symbol: MAEA
  hgvsc: ENST00000512289.1:n.1387-16C>T
  variant of: http://identifiers.org/hgnc/13731
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26382
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17438
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3866
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2870
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.207184092366902e-4
allele num: 3118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.87419e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.708e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.39e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e0

QD
type: SiteQuality
SIO_000300: 7.67e0

GenotypeDepth
all individuals: 1148
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46046
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541639687972127e-5
allele num: 64866
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.489e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.136e0

DP
type: SiteQuality
SIO_000300: 1.582394e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.629e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

QD
type: SiteQuality
SIO_000300: 6.98e0

GenotypeDepth
all individuals: 8
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53997782431933e-5
allele num: 64936
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.584253e6

VQSLOD
type: SiteQuality
SIO_000300: -7.12e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

FS
type: SiteQuality
SIO_000300: 7.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.146e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.349e0

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeDepth
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 338
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46297
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7577
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536806516059628e-5
allele num: 65070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

FS
type: SiteQuality
SIO_000300: 6.773e0

QD
type: SiteQuality
SIO_000300: 1.159e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.588202e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

MQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 7.5e0
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GenotypeQuality
all individuals: 1772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 9.75e1
variant carriers: 16

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.031221582297666e-4
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.951013181192209e-4
allele num: 10166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.383210893554237e-4
allele num: 65066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.387e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.58905e6

GenotypeDepth
all individuals: 137
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 365
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variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.25e1
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GenotypeQuality
all individuals: 15
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.599674956303088e-5
allele num: 65222
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.273e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 1.589768e6

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17168
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46236
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 723
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variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.604166666666667e-4
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.588226e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

FS
type: SiteQuality
SIO_000300: 2.629e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeDepth
all individuals: 17170
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 172
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variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
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variant carriers: 0

GenotypeQuality
all individuals: 7458
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variant carriers: 0

GenotypeQuality
all individuals: 1739
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
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variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 280
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GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
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GenotypeQuality
all individuals: 46270
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
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variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.75e1
variant carriers: 4

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.596996628869139e-5
allele num: 65260
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.067e1

DP
type: SiteQuality
SIO_000300: 1.588006e6

GenotypeDepth
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 315
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variant carriers: 1

GenotypeQuality
all individuals: 1657
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variant carriers: 0

GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
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GenotypeQuality
all individuals: 46313
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variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
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variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532144389287247e-5
allele num: 65268
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.926e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 1.365e0

DP
type: SiteQuality
SIO_000300: 1.58736e6

QD
type: SiteQuality
SIO_000300: 1.317e1

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 7430
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variant carriers: 0

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

GenotypeQuality
all individuals: 968
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GenotypeQuality
all individuals: 297
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 195
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GenotypeQuality
all individuals: 717
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GenotypeQuality
all individuals: 1650
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GenotypeQuality
all individuals: 189
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GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 232
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GenotypeQuality
all individuals: 273
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GenotypeQuality
all individuals: 1737
bin: 7.25e1
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GenotypeQuality
all individuals: 315
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 172
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variant carriers: 0

GenotypeQuality
all individuals: 46129
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.818843215714805e-4
allele num: 16494
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.142e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.585628e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-1

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
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variant carriers: 0

GenotypeDepth
all individuals: 3
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GenotypeQuality
all individuals: 310
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variant carriers: 1

GenotypeQuality
all individuals: 260
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GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 367
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GenotypeQuality
all individuals: 152
bin: 4.25e1
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GenotypeQuality
all individuals: 304
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GenotypeQuality
all individuals: 92
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GenotypeQuality
all individuals: 29
bin: 2.5e0
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GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
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GenotypeQuality
all individuals: 170
bin: 9.25e1
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GenotypeQuality
all individuals: 1005
bin: 2.25e1
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GenotypeQuality
all individuals: 710
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variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
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GenotypeQuality
all individuals: 188
bin: 8.75e1
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GenotypeQuality
all individuals: 7346
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GenotypeQuality
all individuals: 292
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GenotypeQuality
all individuals: 1721
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variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45681
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.53298994358597e-5
allele num: 65232
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.309e0

VQSLOD
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SIO_000300: -5.86e-2

QD
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ReadPosRankSum
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FS
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SIO_000300: 4.488e0

MQ
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MQRankSum
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SIO_000300: 5.74e-1

ClippingRankSum
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SIO_000300: -3.58e-1

DP
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SIO_000300: 1.582096e6

InbreedingCoeff
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SIO_000300: 1.8e-3

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65064
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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DP
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -8.45e-1

VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.533177971298908e-5
allele num: 65224
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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SIO_000300: 1.001e1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 4.03e-1

ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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SIO_000300: 5.958e1

VQSLOD
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MQRankSum
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SIO_000300: 3.08e-1

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.344803614876608e-4
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65220
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
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SIO_000300: -7.0e-4

QD
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SIO_000300: 1.044e1

ReadPosRankSum
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SIO_000300: -3.16e-1

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.88e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

DP
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SIO_000300: 1.581522e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

GenotypeDepth
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variant carriers: 12

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 131
allele frequency: 2.008278399509428e-3
allele num: 65230
num of homozygotes: 1

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
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African
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allele count: 6
allele frequency: 5.909001378766989e-4
allele num: 10154
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.057169061449098e-4
allele num: 6542
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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Latino
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African
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allele frequency: 9.859988168014199e-5
allele num: 10142
num of homozygotes: 0

South Asian
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64976
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
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South Asian
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African
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East Asian
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Other
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Latino
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InbreedingCoeff
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SIO_000300: -1.3e-3

MQRankSum
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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Other
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European (Non-Finnish)
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allele num: 64658
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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QD
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MQ
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ClippingRankSum
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

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

Other
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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East Asian
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allele num: 8426
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MQRankSum
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FS
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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South Asian
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allele num: 16140
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Latino
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num of homozygotes: 0

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

South Asian
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African
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Latino
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 1.575200050406402e-5
allele num: 63484
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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QD
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DP
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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Latino
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East Asian
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 9712
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6074
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BaseQRankSum
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SIO_000300: 1.85e0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 62846
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.645278051990786e-4
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.604312391708914e-5
allele num: 62332
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.281065846784525e-4
allele num: 15612
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.894283476898982e-5
allele num: 61296
num of homozygotes: 0

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

African
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allele count: 0
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BaseQRankSum
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SIO_000300: 2.09e0

MQRankSum
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SIO_000300: -2.48e-1

FS
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SIO_000300: 2.759e0

ReadPosRankSum
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QD
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InbreedingCoeff
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DP
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MQ
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SIO_000300: 5.974e1

ClippingRankSum
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SIO_000300: -5.49e-1

VQSLOD
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.6433313613357e-5
allele num: 60852
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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Other
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East Asian
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African
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VQSLOD
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QD
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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 frequency: 1.651091371396493e-5
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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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African
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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QD
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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allele num: 57744
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African
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Latino
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East Asian
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South Asian
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FS
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 6.110477431970019e-5
allele num: 49096
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East Asian
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European (Finnish)
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Latino
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African
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Other
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South Asian
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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DP
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QD
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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DP
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MQ
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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QD
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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Other
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African
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allele frequency: 0.0e0
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FS
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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Other
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African
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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DP
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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DP
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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FS
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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BaseQRankSum
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FS
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MQRankSum
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QD
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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MQ
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4470
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 2.837684449489217e-4
allele num: 3524
num of homozygotes: 0

Latino
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allele frequency: 2.377555872563005e-4
allele num: 4206
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29180
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 4.025764895330113e-4
allele num: 9936
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.867e0

FS
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SIO_000300: 1.39e0

MQ
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QD
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DP
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InbreedingCoeff
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SIO_000300: -2.04e-2

ReadPosRankSum
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MQRankSum
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SIO_000300: -4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
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SIO_000300: 5.52e-1

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.947660954145438e-4
allele num: 8636
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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MQ
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SIO_000300: 5.915e1

ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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FS
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SIO_000300: 4.056e0

BaseQRankSum
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SIO_000300: 1.35e-1

MQRankSum
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SIO_000300: 1.35e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21394
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 320
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 2.34796900680911e-4
allele num: 8518
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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SIO_000300: 5.06e-1

MQRankSum
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SIO_000300: -4.1e-2

QD
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SIO_000300: 1.25e1

DP
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SIO_000300: 5.19389e5

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.300897619357356e-4
allele num: 15374
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 4.42394e5

InbreedingCoeff
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SIO_000300: -3.98e-2

MQRankSum
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SIO_000300: -1.43e-1

FS
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1578
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 252
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 6.743088334457182e-5
allele num: 14830
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QD
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FS
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 1232
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 1172
num of homozygotes: 0

European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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African
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InbreedingCoeff
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FS
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QD
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
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South Asian
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African
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allele frequency: 5.045408678102926e-4
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 8.835483300936562e-5
allele num: 11318
num of homozygotes: 0

Latino
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Other
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East Asian
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VQSLOD
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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African
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East Asian
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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DP
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BaseQRankSum
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -4.6e-2

MQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

African
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allele frequency: 1.981375074301565e-4
allele num: 10094
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South Asian
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East Asian
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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FS
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MQ
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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allele frequency: 1.780670514552376e-3
allele num: 16286
num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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allele num: 64378
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Latino
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QD
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DP
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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Other
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South Asian
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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Latino
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South Asian
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FS
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

DP
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SIO_000300: 1.668069e6

VQSLOD
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SIO_000300: -2.35e-2

ClippingRankSum
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SIO_000300: 7.42e-1

QD
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SIO_000300: 1.303e1

BaseQRankSum
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SIO_000300: -1.314e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 2.289e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.536570374923171e-5
allele num: 65080
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.679876e6

MQRankSum
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SIO_000300: 3.0e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: 1.9e-3

ReadPosRankSum
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SIO_000300: 8.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -9.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

QD
type: SiteQuality
SIO_000300: 1.05e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

InbreedingCoeff
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SIO_000300: -4.0e-4

FS
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SIO_000300: 2.952e0

ClippingRankSum
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SIO_000300: -3.66e-1

DP
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SIO_000300: 1.700897e6

VQSLOD
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SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.45e0

QD
type: SiteQuality
SIO_000300: 1.282e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521329033043267e-5
allele num: 65732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ClippingRankSum
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QD
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MQRankSum
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SIO_000300: -7.12e-1

BaseQRankSum
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SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.702481e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeDepth
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.862039625622949e-4
allele num: 16454
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65766
num of homozygotes: 0

Latino
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allele num: 11478
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
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allele num: 898
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51952590791673e-5
allele num: 65810
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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East Asian
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Other
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.037851631326326e-5
allele num: 65836
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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East Asian
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Other
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South Asian
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VQSLOD
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QD
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MQRankSum
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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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FS
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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