7-75615086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615086
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615086
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 34566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*893C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.802C>T
  hgvsp: ENSP00000412490.1:p.Pro268Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.199C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1739C>T
  hgvsp: ENSP00000393527.1:p.Pro581Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1588C>T
  hgvsp: ENSP00000378355.1:p.Pro530Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1012C>T
  hgvsp: ENSP00000446149.1:p.Pro338Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1588C>T
  hgvsp: ENSP00000419970.1:p.Pro530Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-292C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1285C>T
  hgvsp: ENSP00000416572.1:p.Pro429Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+55C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27643
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro530Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

7-75615095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615095
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615095
    reference: chr 7
allele count: 1
allele frequency: 3.049524274213223e-5
allele num: 32792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1597A>G
  hgvsp: ENSP00000378355.1:p.Met533Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1597A>G
  hgvsp: ENSP00000419970.1:p.Met533Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1748A>G
  hgvsp: ENSP00000393527.1:p.Met584Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+64A>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-283A>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.811A>G
  hgvsp: ENSP00000412490.1:p.Met271Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.208A>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1294A>G
  hgvsp: ENSP00000416572.1:p.Met432Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1021A>G
  hgvsp: ENSP00000446149.1:p.Met341Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*902A>G
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26546
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met533Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

7-75615101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615101
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615101
    reference: chr 7
allele count: 1
allele frequency: 3.239810795049569e-5
allele num: 30866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.214G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+70G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.817G>A
  hgvsp: ENSP00000412490.1:p.Gly273Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-277G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1603G>A
  hgvsp: ENSP00000419970.1:p.Gly535Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1027G>A
  hgvsp: ENSP00000446149.1:p.Gly343Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1754G>A
  hgvsp: ENSP00000393527.1:p.Gly586Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1300G>A
  hgvsp: ENSP00000416572.1:p.Gly434Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1603G>A
  hgvsp: ENSP00000378355.1:p.Gly535Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*908G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly535Ser
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

7-75615102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615102
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615102
    reference: chr 7
allele count: 1
allele frequency: 3.297717979158422e-5
allele num: 30324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1604G>A
  hgvsp: ENSP00000378355.1:p.Gly535Asp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*909G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-276G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+71G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1301G>A
  hgvsp: ENSP00000416572.1:p.Gly434Asp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1028G>A
  hgvsp: ENSP00000446149.1:p.Gly343Asp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1755G>A
  hgvsp: ENSP00000393527.1:p.Gly586Asp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1604G>A
  hgvsp: ENSP00000419970.1:p.Gly535Asp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.818G>A
  hgvsp: ENSP00000412490.1:p.Gly273Asp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.215G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly535Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

7-75615106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615106
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615106
    reference: chr 7
allele count: 2
allele frequency: 6.932889628397117e-5
allele num: 28848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.219C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.822C>T
  hgvsp: ENST00000439269.1:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1305C>T
  hgvsp: ENST00000450476.1:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-272C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1608C>T
  hgvsp: ENST00000461988.1:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*913C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1608C>T
  hgvsp: ENST00000394893.1:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+75C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1759C>T
  hgvsp: ENST00000447222.1:c.1759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1032C>T
  hgvsp: ENST00000545601.1:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro536Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

7-75615107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615107
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615107
    reference: chr 7
allele count: 4
allele frequency: 1.39314572304263e-4
allele num: 28712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1033G>A
  hgvsp: ENSP00000446149.1:p.Gly345Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+76G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1306G>A
  hgvsp: ENSP00000416572.1:p.Gly436Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-271G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1609G>A
  hgvsp: ENSP00000419970.1:p.Gly537Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1609G>A
  hgvsp: ENSP00000378355.1:p.Gly537Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*914G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.823G>A
  hgvsp: ENSP00000412490.1:p.Gly275Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1760G>A
  hgvsp: ENSP00000393527.1:p.Gly588Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.220G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26834
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16576
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly537Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

7-75615107-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615107
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615107
    reference: chr 7
allele count: 3
allele frequency: 1.044859292281973e-4
allele num: 28712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1609G>C
  hgvsp: ENSP00000378355.1:p.Gly537Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1609G>C
  hgvsp: ENSP00000419970.1:p.Gly537Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+76G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.823G>C
  hgvsp: ENSP00000412490.1:p.Gly275Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*914G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.220G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-271G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1306G>C
  hgvsp: ENSP00000416572.1:p.Gly436Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1033G>C
  hgvsp: ENSP00000446149.1:p.Gly345Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1760G>C
  hgvsp: ENSP00000393527.1:p.Gly588Arg
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26834
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Gly537Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

7-75615108-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615108
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615108
    reference: chr 7
allele count: 1
allele frequency: 3.539071347678369e-5
allele num: 28256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1610G>T
  hgvsp: ENSP00000378355.1:p.Gly537Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1761G>T
  hgvsp: ENSP00000393527.1:p.Gly588Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-270G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.824G>T
  hgvsp: ENSP00000412490.1:p.Gly275Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.221G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1034G>T
  hgvsp: ENSP00000446149.1:p.Gly345Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*915G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1610G>T
  hgvsp: ENSP00000419970.1:p.Gly537Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+77G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1307G>T
  hgvsp: ENSP00000416572.1:p.Gly436Val
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly537Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-75615110-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615110
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615110
    reference: chr 7
allele count: 1
allele frequency: 3.557452863749556e-5
allele num: 28110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1763A>C
  hgvsp: ENSP00000393527.1:p.Thr589Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.223A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.826A>C
  hgvsp: ENSP00000412490.1:p.Thr276Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+79A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1309A>C
  hgvsp: ENSP00000416572.1:p.Thr437Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*917A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-268A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1036A>C
  hgvsp: ENSP00000446149.1:p.Thr346Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1612A>C
  hgvsp: ENSP00000419970.1:p.Thr538Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1612A>C
  hgvsp: ENSP00000378355.1:p.Thr538Pro
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26902
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr538Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

7-75615112-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615112
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615112
    reference: chr 7
allele count: 1
allele frequency: 3.643252696006995e-5
allele num: 27448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1614C>G
  hgvsp: ENST00000394893.1:c.1614C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+81C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1311C>G
  hgvsp: ENST00000450476.1:c.1311C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.225C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1765C>G
  hgvsp: ENST00000447222.1:c.1765C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-266C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*919C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.828C>G
  hgvsp: ENST00000439269.1:c.828C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1614C>G
  hgvsp: ENST00000461988.1:c.1614C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1038C>G
  hgvsp: ENST00000545601.1:c.1038C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr538Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

7-75615112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615112
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615112
    reference: chr 7
allele count: 4
allele frequency: 1.457301078402798e-4
allele num: 27448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1038C>T
  hgvsp: ENST00000545601.1:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1311C>T
  hgvsp: ENST00000450476.1:c.1311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-266C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*919C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.828C>T
  hgvsp: ENST00000439269.1:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1765C>T
  hgvsp: ENST00000447222.1:c.1765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1614C>T
  hgvsp: ENST00000461988.1:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1614C>T
  hgvsp: ENST00000394893.1:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+81C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.225C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26918
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17508
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr538Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

7-75615113-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615113
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615113
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 27424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+82G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1312G>C
  hgvsp: ENSP00000416572.1:p.Gly438Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.829G>C
  hgvsp: ENSP00000412490.1:p.Gly277Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1615G>C
  hgvsp: ENSP00000419970.1:p.Gly539Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1766G>C
  hgvsp: ENSP00000393527.1:p.Gly590Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-265G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*920G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1039G>C
  hgvsp: ENSP00000446149.1:p.Gly347Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1615G>C
  hgvsp: ENSP00000378355.1:p.Gly539Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.226G>C
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27038
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly539Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

7-75615115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615115
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615115
    reference: chr 7
allele count: 1
allele frequency: 3.664883090229422e-5
allele num: 27286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1617G>A
  hgvsp: ENST00000461988.1:c.1617G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+84G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1617G>A
  hgvsp: ENST00000394893.1:c.1617G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1314G>A
  hgvsp: ENST00000450476.1:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-263G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1768G>A
  hgvsp: ENST00000447222.1:c.1768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1041G>A
  hgvsp: ENST00000545601.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.831G>A
  hgvsp: ENST00000439269.1:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.228G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*922G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24668
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly539Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

7-75615119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615119
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615119
    reference: chr 7
allele count: 1
allele frequency: 3.766478342749529e-5
allele num: 26550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1045G>A
  hgvsp: ENSP00000446149.1:p.Ala349Thr
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1318G>A
  hgvsp: ENSP00000416572.1:p.Ala440Thr
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+88G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1621G>A
  hgvsp: ENSP00000419970.1:p.Ala541Thr
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.232G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1621G>A
  hgvsp: ENSP00000378355.1:p.Ala541Thr
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-259G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1772G>A
  hgvsp: ENSP00000393527.1:p.Ala592Thr
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.835G>A
  hgvsp: ENSP00000412490.1:p.Ala279Thr
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*926G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27139
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala541Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/7-75615128-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615128
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615128
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 25760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1630A>C
  hgvsp: ENSP00000378355.1:p.Ile544Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1327A>C
  hgvsp: ENSP00000416572.1:p.Ile443Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1054A>C
  hgvsp: ENSP00000446149.1:p.Ile352Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.844A>C
  hgvsp: ENSP00000412490.1:p.Ile282Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.241A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1781A>C
  hgvsp: ENSP00000393527.1:p.Ile595Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*935A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+97A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-250A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1630A>C
  hgvsp: ENSP00000419970.1:p.Ile544Leu
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27215
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ile544Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-75615130-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615130
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615130
    reference: chr 7
allele count: 3
allele frequency: 1.166135427194278e-4
allele num: 25726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.243A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-248A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.846A>C
  hgvsp: ENST00000439269.1:c.846A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1056A>C
  hgvsp: ENST00000545601.1:c.1056A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1783A>C
  hgvsp: ENST00000447222.1:c.1783A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1632A>C
  hgvsp: ENST00000394893.1:c.1632A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+99A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1329A>C
  hgvsp: ENST00000450476.1:c.1329A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*937A>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1632A>C
  hgvsp: ENST00000461988.1:c.1632A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile544Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-75615146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615146
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615146
    reference: chr 7
allele count: 4
allele frequency: 1.686198465559396e-4
allele num: 23722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1648C>T
  hgvsp: ENSP00000378355.1:p.Arg550Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*953C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-232C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.862C>T
  hgvsp: ENSP00000412490.1:p.Arg288Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1648C>T
  hgvsp: ENSP00000419970.1:p.Arg550Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+115C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1072C>T
  hgvsp: ENSP00000446149.1:p.Arg358Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1799C>T
  hgvsp: ENSP00000393527.1:p.Arg601Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1345C>T
  hgvsp: ENSP00000416572.1:p.Arg449Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.259C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18560
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27555
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24720
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Arg550Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

7-75615151-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615151
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615151
    reference: chr 7
allele count: 1
allele frequency: 4.266939750810719e-5
allele num: 23436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+120C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1077C>G
  hgvsp: ENST00000545601.1:c.1077C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.264C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1653C>G
  hgvsp: ENST00000394893.1:c.1653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1653C>G
  hgvsp: ENST00000461988.1:c.1653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1350C>G
  hgvsp: ENST00000450476.1:c.1350C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-227C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1804C>G
  hgvsp: ENST00000447222.1:c.1804C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*958C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.867C>G
  hgvsp: ENST00000439269.1:c.867C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27789
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala551Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

7-75615153-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615153
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615153
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 23282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*960G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.266G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+122G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1655G>T
  hgvsp: ENSP00000419970.1:p.Trp552Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1352G>T
  hgvsp: ENSP00000416572.1:p.Trp451Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1079G>T
  hgvsp: ENSP00000446149.1:p.Trp360Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1655G>T
  hgvsp: ENSP00000378355.1:p.Trp552Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.869G>T
  hgvsp: ENSP00000412490.1:p.Trp290Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1806G>T
  hgvsp: ENSP00000393527.1:p.Trp603Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-225G>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18620
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp552Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS

7-75615158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615158
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615158
    reference: chr 7
allele count: 1
allele frequency: 4.387119417390542e-5
allele num: 22794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.271C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.874C>T
  hgvsp: ENSP00000412490.1:p.Arg292Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1660C>T
  hgvsp: ENSP00000419970.1:p.Arg554Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1811C>T
  hgvsp: ENSP00000393527.1:p.Arg605Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1660C>T
  hgvsp: ENSP00000378355.1:p.Arg554Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+127C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1357C>T
  hgvsp: ENSP00000416572.1:p.Arg453Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1084C>T
  hgvsp: ENSP00000446149.1:p.Arg362Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*965C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-220C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28040
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17949
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg554Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

7-75615159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615159
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615159
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 23050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1812G>A
  hgvsp: ENSP00000393527.1:p.Arg605Gln
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1085G>A
  hgvsp: ENSP00000446149.1:p.Arg362Gln
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*966G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1661G>A
  hgvsp: ENSP00000378355.1:p.Arg554Gln
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1661G>A
  hgvsp: ENSP00000419970.1:p.Arg554Gln
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1358G>A
  hgvsp: ENSP00000416572.1:p.Arg453Gln
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.875G>A
  hgvsp: ENSP00000412490.1:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.272G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+128G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-219G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28126
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg554Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

7-75615162-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615162
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615162
    reference: chr 7
allele count: 1
allele frequency: 4.340654570709263e-5
allele num: 23038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1815A>T
  hgvsp: ENSP00000393527.1:p.Gln606Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.878A>T
  hgvsp: ENSP00000412490.1:p.Gln293Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1664A>T
  hgvsp: ENSP00000419970.1:p.Gln555Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+131A>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1664A>T
  hgvsp: ENSP00000378355.1:p.Gln555Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1088A>T
  hgvsp: ENSP00000446149.1:p.Gln363Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*969A>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-216A>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.275A>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1361A>T
  hgvsp: ENSP00000416572.1:p.Gln454Leu
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln555Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

7-75615172-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615172
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615172
    reference: chr 7
allele count: 2
allele frequency: 8.574858514834505e-5
allele num: 23324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-206G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1093+5G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1669+5G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.883+5G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+141G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1820+5G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*974+5G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.280+5G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1669+5G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1366+5G>C
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28617
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18071
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1669+5G>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-75615174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615174
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615174
    reference: chr 7
allele count: 1
allele frequency: 4.404510218463707e-5
allele num: 22704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1093+7G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.280+7G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1366+7G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1820+7G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*974+7G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+143G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-204G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.883+7G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5005
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1669+7G>A
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

7-75615178-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615178
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615178
    reference: chr 7
allele count: 1
allele frequency: 4.326756663205262e-5
allele num: 23112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1093+11T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-200T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1669+11T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.280+11T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+147T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.883+11T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1820+11T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1366+11T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*974+11T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1669+11T>G
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28579
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-75615179-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615179
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615179
    reference: chr 7
allele count: 2
allele frequency: 8.685833405715279e-5
allele num: 23026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+148C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1669+12C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1820+12C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.280+12C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-199C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1366+12C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1669+12C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.883+12C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*974+12C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1093+12C>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7478
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

7-75615183-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615183
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615183
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 23104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-195T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*974+16T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.883+16T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1820+16T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1366+16T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1093+16T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1669+16T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.280+16T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+152T>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1669+16T>G
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28809
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

7-75615188-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615188
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615189
    reference: chr 7
allele count: 2
allele frequency: 8.666262241095416e-5
allele num: 23078
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+158dupA
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-189dupA
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1093+22dupA
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1669+22dupA
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*974+22dupA
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.280+22dupA
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1366+22dupA
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1820+22dupA
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.883+22dupA
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1669+22dupA
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28925
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

7-75615192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615192
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615192
    reference: chr 7
allele count: 6
allele frequency: 2.573781743308168e-4
allele num: 23312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1669+25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1366+25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.280+25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+161G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.883+25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-186G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*974+25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1669+25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1093+25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1820+25G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29178
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

7-75615197-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615197
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615197
    reference: chr 7
allele count: 1
allele frequency: 4.264392324093817e-5
allele num: 23450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1093+30T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.280+30T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1669+30T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*974+30T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1669+30T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1820+30T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1366+30T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-181T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+166T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.883+30T>C
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

7-75615200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615200
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615200
    reference: chr 7
allele count: 469
allele frequency: 1.951402180244654e-2
allele num: 24034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-178C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.883+33C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*974+33C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1366+33C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.280+33C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1669+33C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1820+33C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1669+33C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1093+33C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+169C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7809
  bin: 1.25e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29259
  bin: 7.5e0
  variant carriers: 341
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16647
  bin: 2.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 51
num of homozygotes: 10
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-75615201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615201
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615201
    reference: chr 7
allele count: 4
allele frequency: 1.643115346697338e-4
allele num: 24344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1093+34G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.883+34G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1669+34G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+170G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.280+34G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1366+34G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-177G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1669+34G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*974+34G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1820+34G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

7-75615213-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615213
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615213
    reference: chr 7
allele count: 1
allele frequency: 3.924030764401193e-5
allele num: 25484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-28C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-28C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+182C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-28C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-28C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-28C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-28C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-28C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-28C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-165C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29906
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15386
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

7-75615214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615214
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615214
    reference: chr 7
allele count: 1
allele frequency: 3.858322401419863e-5
allele num: 25918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+183G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-27G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-27G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-27G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-27G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-164G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-27G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-27G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-27G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-27G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30042
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 1.25e1
  variant carriers: 0
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: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

7-75615215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615215
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615215
    reference: chr 7
allele count: 2
allele frequency: 7.7417356971433e-5
allele num: 25834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-26C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-26C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-26C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-26C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+184C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-26C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-163C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-26C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-26C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-26C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30012
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14472
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum

7-75615215-CGCTCACCCCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615215
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615205
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 25834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 30012
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: CGCTCACCCCG
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

7-75615216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615216
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615216
    reference: chr 7
allele count: 2
allele frequency: 7.620789513793629e-5
allele num: 26244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-162G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+185G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-25G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-25G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

7-75615224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615224
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615224
    reference: chr 7
allele count: 63
allele frequency: 2.202027263194687e-3
allele num: 28610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-17C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-17C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-17C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-154C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+193C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-17C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-17C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-17C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-17C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-17C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30743
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13234
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-75615225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615225
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615225
    reference: chr 7
allele count: 8
allele frequency: 2.729816419845766e-4
allele num: 29306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-16G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-16G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-16G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-16G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+194G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-16G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-153G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-16G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-16G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-16G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30960
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

7-75615229-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615229
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615229
    reference: chr 7
allele count: 1
allele frequency: 3.25796572620056e-5
allele num: 30694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-12C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-149C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-12C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-12C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-12C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-12C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-12C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-12C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-12C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+198C>G
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

7-75615229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615229
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615229
    reference: chr 7
allele count: 11
allele frequency: 3.583762298820616e-4
allele num: 30694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-12C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+198C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-12C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-12C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-12C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-149C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-12C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-12C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-12C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-12C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31444
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

7-75615236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615236
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615236
    reference: chr 7
allele count: 1
allele frequency: 3.083754779819908e-5
allele num: 32428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-5C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-5C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-5C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-142C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-5C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-5C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-5C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-5C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-5C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+205C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1670-5C>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-75615237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615237
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615237
    reference: chr 7
allele count: 4
allele frequency: 1.225490196078431e-4
allele num: 32640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-4G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-4G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-4G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+206G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-4G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-4G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-4G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-4G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-4G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-141G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1670-4G>A
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

7-75615238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615238
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615238
    reference: chr 7
allele count: 1
allele frequency: 3.00228173411793e-5
allele num: 33308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281-3C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-140C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367-3C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884-3C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670-3C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670-3C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975-3C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094-3C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821-3C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+207C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31777
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32022
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1670-3C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

7-75615241-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615241
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615241
    reference: chr 7
allele count: 1
allele frequency: 2.926886378270796e-5
allele num: 34166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1670G>T
  hgvsp: ENSP00000419970.1:p.Gly557Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1670G>T
  hgvsp: ENSP00000378355.1:p.Gly557Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+210G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1367G>T
  hgvsp: ENSP00000416572.1:p.Gly456Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-137G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1821G>T
  hgvsp: ENSP00000393527.1:p.Gly608Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.884G>T
  hgvsp: ENSP00000412490.1:p.Gly295Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.281G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1094G>T
  hgvsp: ENSP00000446149.1:p.Gly365Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*975G>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly557Val
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-75615242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615242
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615242
    reference: chr 7
allele count: 3
allele frequency: 8.670520231213873e-5
allele num: 34600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1368C>T
  hgvsp: ENST00000450476.1:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-136C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1671C>T
  hgvsp: ENST00000461988.1:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1095C>T
  hgvsp: ENST00000545601.1:c.1095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*976C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1671C>T
  hgvsp: ENST00000394893.1:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.282C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.885C>T
  hgvsp: ENST00000439269.1:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+211C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1822C>T
  hgvsp: ENST00000447222.1:c.1822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1671C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

7-75615246-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615246
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615246
    reference: chr 7
allele count: 1
allele frequency: 2.78473962684489e-5
allele num: 35910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.286G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*980G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1372G>A
  hgvsp: ENSP00000416572.1:p.Glu458Lys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1675G>A
  hgvsp: ENSP00000419970.1:p.Glu559Lys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+215G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.889G>A
  hgvsp: ENSP00000412490.1:p.Glu297Lys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1099G>A
  hgvsp: ENSP00000446149.1:p.Glu367Lys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1826G>A
  hgvsp: ENSP00000393527.1:p.Glu610Lys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-132G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1675G>A
  hgvsp: ENSP00000378355.1:p.Glu559Lys
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu559Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-75615247-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615247
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615247
    reference: chr 7
allele count: 1
allele frequency: 2.766098694401416e-5
allele num: 36152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1100A>T
  hgvsp: ENSP00000446149.1:p.Glu367Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-131A>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.890A>T
  hgvsp: ENSP00000412490.1:p.Glu297Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1676A>T
  hgvsp: ENSP00000378355.1:p.Glu559Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*981A>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+216A>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1676A>T
  hgvsp: ENSP00000419970.1:p.Glu559Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.287A>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1373A>T
  hgvsp: ENSP00000416572.1:p.Glu458Val
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1827A>T
  hgvsp: ENSP00000393527.1:p.Glu610Val
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu559Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

7-75615251-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615251
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615251
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 37458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*985G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1680G>C
  hgvsp: ENST00000394893.1:c.1680G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1377G>C
  hgvsp: ENST00000450476.1:c.1377G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1831G>C
  hgvsp: ENST00000447222.1:c.1831G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+220G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1104G>C
  hgvsp: ENST00000545601.1:c.1104G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1680G>C
  hgvsp: ENST00000461988.1:c.1680G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-127G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.291G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.894G>C
  hgvsp: ENST00000439269.1:c.894G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val560Val
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-75615251-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615251
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615251
    reference: chr 7
allele count: 1
allele frequency: 2.669656682150675e-5
allele num: 37458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1680G>T
  hgvsp: ENST00000394893.1:c.1680G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1104G>T
  hgvsp: ENST00000545601.1:c.1104G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1680G>T
  hgvsp: ENST00000461988.1:c.1680G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+220G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1377G>T
  hgvsp: ENST00000450476.1:c.1377G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*985G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1831G>T
  hgvsp: ENST00000447222.1:c.1831G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.894G>T
  hgvsp: ENST00000439269.1:c.894G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.291G>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-127G>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val560Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-75615252-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615252
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615252
    reference: chr 7
allele count: 1
allele frequency: 2.656183595410115e-5
allele num: 37648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1832G>C
  hgvsp: ENSP00000393527.1:p.Gly612Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.292G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+221G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1681G>C
  hgvsp: ENSP00000378355.1:p.Gly561Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.895G>C
  hgvsp: ENSP00000412490.1:p.Gly299Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*986G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-126G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1378G>C
  hgvsp: ENSP00000416572.1:p.Gly460Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1681G>C
  hgvsp: ENSP00000419970.1:p.Gly561Arg
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1105G>C
  hgvsp: ENSP00000446149.1:p.Gly369Arg
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly561Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

7-75615255-G-GAGAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615255
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615259
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 38252
alternate allele: GAGAC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.899_902dupAGAC
  hgvsp: ENSP00000412490.1:p.Leu302AspfsTer12
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*990_*993dupAGAC
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+225_975+228dupAGAC
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1382_1385dupAGAC
  hgvsp: ENSP00000416572.1:p.Leu463AspfsTer12
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.296_299dupAGAC
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1685_1688dupAGAC
  hgvsp: ENSP00000378355.1:p.Leu564AspfsTer12
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1836_1839dupAGAC
  hgvsp: ENSP00000393527.1:p.Leu615AspfsTer12
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1109_1112dupAGAC
  hgvsp: ENSP00000446149.1:p.Leu372AspfsTer12
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-122_*109-119dupAGAC
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1685_1688dupAGAC
  hgvsp: ENSP00000419970.1:p.Leu564AspfsTer12
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30808
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31581
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu564AspfsTer12
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-75615259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615259
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615259
    reference: chr 7
allele count: 7
allele frequency: 1.816577567862148e-4
allele num: 38534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+228C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1688C>T
  hgvsp: ENSP00000378355.1:p.Thr563Met
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.902C>T
  hgvsp: ENSP00000412490.1:p.Thr301Met
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1688C>T
  hgvsp: ENSP00000419970.1:p.Thr563Met
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*993C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.299C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1385C>T
  hgvsp: ENSP00000416572.1:p.Thr462Met
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1839C>T
  hgvsp: ENSP00000393527.1:p.Thr614Met
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-119C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1112C>T
  hgvsp: ENSP00000446149.1:p.Thr371Met
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30535
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr563Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

7-75615260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615260
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615260
    reference: chr 7
allele count: 1
allele frequency: 2.574002574002574e-5
allele num: 38850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1689G>A
  hgvsp: ENST00000394893.1:c.1689G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1689G>A
  hgvsp: ENST00000461988.1:c.1689G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1113G>A
  hgvsp: ENST00000545601.1:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.300G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1840G>A
  hgvsp: ENST00000447222.1:c.1840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.903G>A
  hgvsp: ENST00000439269.1:c.903G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-118G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+229G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1386G>A
  hgvsp: ENST00000450476.1:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*994G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr563Thr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

7-75615266-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615266
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615266
    reference: chr 7
allele count: 2
allele frequency: 5.073051948051948e-5
allele num: 39424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1846G>C
  hgvsp: ENST00000447222.1:c.1846G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1000G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.909G>C
  hgvsp: ENST00000439269.1:c.909G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1695G>C
  hgvsp: ENST00000461988.1:c.1695G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1695G>C
  hgvsp: ENST00000394893.1:c.1695G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+235G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.306G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-112G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1392G>C
  hgvsp: ENST00000450476.1:c.1392G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1119G>C
  hgvsp: ENST00000545601.1:c.1119G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29882
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu565Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

7-75615269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615269
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615269
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 37058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.309C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1849C>T
  hgvsp: ENST00000447222.1:c.1849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1003C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1122C>T
  hgvsp: ENST00000545601.1:c.1122C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1698C>T
  hgvsp: ENST00000394893.1:c.1698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1698C>T
  hgvsp: ENST00000461988.1:c.1698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.912C>T
  hgvsp: ENST00000439269.1:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-109C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1395C>T
  hgvsp: ENST00000450476.1:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+238C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28443
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr566Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

7-75615272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615272
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615272
    reference: chr 7
allele count: 2
allele frequency: 5.533728072602512e-5
allele num: 36142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1701C>T
  hgvsp: ENST00000394893.1:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1125C>T
  hgvsp: ENST00000545601.1:c.1125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1006C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1852C>T
  hgvsp: ENST00000447222.1:c.1852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1398C>T
  hgvsp: ENST00000450476.1:c.1398C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.915C>T
  hgvsp: ENST00000439269.1:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1701C>T
  hgvsp: ENST00000461988.1:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.312C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+241C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-106C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28059
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr567Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

7-75615273-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615273
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615273
    reference: chr 7
allele count: 3
allele frequency: 8.070156561037284e-5
allele num: 37174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1126G>A
  hgvsp: ENSP00000446149.1:p.Gly376Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.313G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-105G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.916G>A
  hgvsp: ENSP00000412490.1:p.Gly306Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1007G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+242G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1702G>A
  hgvsp: ENSP00000378355.1:p.Gly568Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1702G>A
  hgvsp: ENSP00000419970.1:p.Gly568Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1853G>A
  hgvsp: ENSP00000393527.1:p.Gly619Ser
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1399G>A
  hgvsp: ENSP00000416572.1:p.Gly467Ser
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly568Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/7-75615278-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615278
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615278
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 37402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.318C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1707C>A
  hgvsp: ENSP00000419970.1:p.Cys569Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1404C>A
  hgvsp: ENSP00000416572.1:p.Cys468Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+247C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-100C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1012C>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1707C>A
  hgvsp: ENSP00000378355.1:p.Cys569Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.921C>A
  hgvsp: ENSP00000412490.1:p.Cys307Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1131C>A
  hgvsp: ENSP00000446149.1:p.Cys377Ter
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1858C>A
  hgvsp: ENSP00000393527.1:p.Cys620Ter
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 28671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys569Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-75615278-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615278
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615278
    reference: chr 7
allele count: 21
allele frequency: 5.614673012138389e-4
allele num: 37402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1858C>G
  hgvsp: ENSP00000393527.1:p.Cys620Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1131C>G
  hgvsp: ENSP00000446149.1:p.Cys377Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1404C>G
  hgvsp: ENSP00000416572.1:p.Cys468Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.318C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-100C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1707C>G
  hgvsp: ENSP00000419970.1:p.Cys569Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.921C>G
  hgvsp: ENSP00000412490.1:p.Cys307Trp
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1012C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+247C>G
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1707C>G
  hgvsp: ENSP00000378355.1:p.Cys569Trp
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.75e1
  variant carriers: 20
hgvs: p.Cys569Trp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

7-75615279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615279
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615279
    reference: chr 7
allele count: 3
allele frequency: 7.724791430631373e-5
allele num: 38836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-99C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1405C>T
  hgvsp: ENSP00000416572.1:p.Arg469Cys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1859C>T
  hgvsp: ENSP00000393527.1:p.Arg621Cys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1132C>T
  hgvsp: ENSP00000446149.1:p.Arg378Cys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.319C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.922C>T
  hgvsp: ENSP00000412490.1:p.Arg308Cys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+248C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1013C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1708C>T
  hgvsp: ENSP00000378355.1:p.Arg570Cys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1708C>T
  hgvsp: ENSP00000419970.1:p.Arg570Cys
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28811
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg570Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

7-75615280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615280
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615280
    reference: chr 7
allele count: 12
allele frequency: 3.066387284714059e-4
allele num: 39134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+249G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1860G>A
  hgvsp: ENSP00000393527.1:p.Arg621His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1133G>A
  hgvsp: ENSP00000446149.1:p.Arg378His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-98G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1709G>A
  hgvsp: ENSP00000378355.1:p.Arg570His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.320G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.923G>A
  hgvsp: ENSP00000412490.1:p.Arg308His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1014G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1709G>A
  hgvsp: ENSP00000419970.1:p.Arg570His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1406G>A
  hgvsp: ENSP00000416572.1:p.Arg469His
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28849
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg570His
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: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

7-75615282-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615282
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615282
    reference: chr 7
allele count: 3
allele frequency: 7.613826709304096e-5
allele num: 39402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.322C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-96C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1711C>T
  hgvsp: ENSP00000419970.1:p.Arg571Cys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.925C>T
  hgvsp: ENSP00000412490.1:p.Arg309Cys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1711C>T
  hgvsp: ENSP00000378355.1:p.Arg571Cys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1016C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1408C>T
  hgvsp: ENSP00000416572.1:p.Arg470Cys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+251C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1135C>T
  hgvsp: ENSP00000446149.1:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1862C>T
  hgvsp: ENSP00000393527.1:p.Arg622Cys
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28861
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10069
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg571Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-75615283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615283
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615283
    reference: chr 7
allele count: 1
allele frequency: 2.551801571909768e-5
allele num: 39188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1863G>A
  hgvsp: ENSP00000393527.1:p.Arg622His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1017G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1712G>A
  hgvsp: ENSP00000419970.1:p.Arg571His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1712G>A
  hgvsp: ENSP00000378355.1:p.Arg571His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.926G>A
  hgvsp: ENSP00000412490.1:p.Arg309His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1136G>A
  hgvsp: ENSP00000446149.1:p.Arg379His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.323G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.975+252G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1409G>A
  hgvsp: ENSP00000416572.1:p.Arg470His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-95G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28842
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg571His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

7-75615286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615286
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615286
    reference: chr 7
allele count: 41
allele frequency: 1.033787191124559e-3
allele num: 39660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1715C>T
  hgvsp: ENSP00000378355.1:p.Ser572Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-92C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1020C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1139C>T
  hgvsp: ENSP00000446149.1:p.Ser380Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1412C>T
  hgvsp: ENSP00000416572.1:p.Ser471Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1866C>T
  hgvsp: ENSP00000393527.1:p.Ser623Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1715C>T
  hgvsp: ENSP00000419970.1:p.Ser572Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.326C>T
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.929C>T
  hgvsp: ENSP00000412490.1:p.Ser310Leu
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.976-249C>T
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28727
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10030
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Ser572Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

7-75615287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615287
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615287
    reference: chr 7
allele count: 18866
allele frequency: 3.810543324580893e-1
allele num: 49510
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1716G>A
  hgvsp: ENST00000461988.1:c.1716G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.930G>A
  hgvsp: ENST00000439269.1:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1716G>A
  hgvsp: ENST00000394893.1:c.1716G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-91G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1140G>A
  hgvsp: ENST00000545601.1:c.1140G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1867G>A
  hgvsp: ENST00000447222.1:c.1867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1413G>A
  hgvsp: ENST00000450476.1:c.1413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.976-248G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1021G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.327G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 456
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 23994
  bin: 7.5e0
  variant carriers: 6346
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 2.25e1
  variant carriers: 1455
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 424
genotype depth: GenotypeDepth
  all individuals: 11402
  bin: 1.25e1
  variant carriers: 7139
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 1.75e1
  variant carriers: 3854
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 2.5e0
  variant carriers: 689
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 444
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 2.75e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.25e1
  variant carriers: 389
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 6.25e1
  variant carriers: 547
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 1.25e1
  variant carriers: 431
hgvs: p.Ser572Ser
num of homozygotes: 2930
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-75615288-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615288
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615288
    reference: chr 7
allele count: 1
allele frequency: 2.518891687657431e-5
allele num: 39700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-90G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.931G>C
  hgvsp: ENSP00000412490.1:p.Asp311His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1717G>C
  hgvsp: ENSP00000378355.1:p.Asp573His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1868G>C
  hgvsp: ENSP00000393527.1:p.Asp624His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1141G>C
  hgvsp: ENSP00000446149.1:p.Asp381His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.328G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.976-247G>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1414G>C
  hgvsp: ENSP00000416572.1:p.Asp472His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1717G>C
  hgvsp: ENSP00000419970.1:p.Asp573His
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1022G>C
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp573His
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-75615294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615294
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615294
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 38560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1723G>A
  hgvsp: ENSP00000378355.1:p.Asp575Asn
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.976-241G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.937G>A
  hgvsp: ENSP00000412490.1:p.Asp313Asn
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1874G>A
  hgvsp: ENSP00000393527.1:p.Asp626Asn
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.334G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1420G>A
  hgvsp: ENSP00000416572.1:p.Asp474Asn
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1147G>A
  hgvsp: ENSP00000446149.1:p.Asp383Asn
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1723G>A
  hgvsp: ENSP00000419970.1:p.Asp575Asn
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1028G>A
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-84G>A
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27121
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp575Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

7-75615301-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75615301
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 75615301
    reference: chr 7
allele count: 40
allele frequency: 1.091524313704088e-3
allele num: 36646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000378355
  ensembl transcript: ENST00000394893
  gene symbol: POR
  hgvsc: ENST00000394893.1:c.1730T>C
  hgvsp: ENSP00000378355.1:p.Leu577Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000419970
  ensembl transcript: ENST00000461988
  gene symbol: POR
  hgvsc: ENST00000461988.1:c.1730T>C
  hgvsp: ENSP00000419970.1:p.Leu577Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414244
  ensembl transcript: ENST00000419840
  gene symbol: POR
  hgvsc: ENST00000419840.1:c.976-234T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000412490
  ensembl transcript: ENST00000439269
  gene symbol: POR
  hgvsc: ENST00000439269.1:c.944T>C
  hgvsp: ENSP00000412490.1:p.Leu315Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000416572
  ensembl transcript: ENST00000450476
  gene symbol: POR
  hgvsc: ENST00000450476.1:c.1427T>C
  hgvsp: ENSP00000416572.1:p.Leu476Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000404731
  ensembl transcript: ENST00000412064
  gene symbol: POR
  hgvsc: ENST00000412064.2:c.*109-77T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000414263
  ensembl transcript: ENST00000454934
  gene symbol: POR
  hgvsc: ENST00000454934.1:c.*1035T>C
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000393527
  ensembl transcript: ENST00000447222
  gene symbol: POR
  hgvsc: ENST00000447222.1:c.1881T>C
  hgvsp: ENSP00000393527.1:p.Leu628Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127948
  ensembl protein: ENSP00000446149
  ensembl transcript: ENST00000545601
  gene symbol: POR
  hgvsc: ENST00000545601.1:c.1154T>C
  hgvsp: ENSP00000446149.1:p.Leu385Pro
  variant of: http://identifiers.org/hgnc/9208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127948
  ensembl transcript: ENST00000493973
  gene symbol: POR
  hgvsc: ENST00000493973.1:n.341T>C
  variant of: http://identifiers.org/hgnc/9208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26128
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Leu577Pro
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1745
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 688
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6435
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13583
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28116
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3128
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.743e0

VQSLOD
type: SiteQuality
SIO_000300: -8.119999999999999e-2

DP
type: SiteQuality
SIO_000300: 5.74551e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1794
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15015
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5384
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.306878306878307e-4
allele num: 3024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.05e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.958e-1

DP
type: SiteQuality
SIO_000300: 5.48465e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.94e0

GenotypeQuality
all individuals: 189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15859
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1033
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3769
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.338329764453962e-4
allele num: 7472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.384e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.26e-2

DP
type: SiteQuality
SIO_000300: 5.2594e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3868
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15872
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.43878954607978e-4
allele num: 2908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.531e0

VQSLOD
type: SiteQuality
SIO_000300: -2.53e-2

FS
type: SiteQuality
SIO_000300: 6.729e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.22936e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.708e0

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
all individuals: 548
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23853
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3939
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16451
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 176
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.407657657657658e-4
allele num: 7104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.875440658049354e-4
allele num: 1702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

FS
type: SiteQuality
SIO_000300: 2.561e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.157e0

MQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 5.08798e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.54e-2

GenotypeQuality
all individuals: 3752
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1798
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 2
allele frequency: 7.102272727272727e-4
allele num: 2816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.304801670146138e-4
allele num: 15328
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.294e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

DP
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SIO_000300: 5.05577e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

QD
type: SiteQuality
SIO_000300: 1.263e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 1.957202505219207e-4
allele num: 15328
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1274
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.294e0

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

QD
type: SiteQuality
SIO_000300: 1.263e1

DP
type: SiteQuality
SIO_000300: 5.05577e5

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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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15040
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.430205949656751e-4
allele num: 6992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.021e0

VQSLOD
type: SiteQuality
SIO_000300: -6.733e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.99299e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.49e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

QD
type: SiteQuality
SIO_000300: 1.06e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 625
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variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.687174000267486e-5
allele num: 14954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.619e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.46e-2

FS
type: SiteQuality
SIO_000300: 2.158e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 4.9696e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3376
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.636363636363636e-4
allele num: 2750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14580
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.92432e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 2.333e0

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6802
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.743484224965707e-4
allele num: 14580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

DP
type: SiteQuality
SIO_000300: 4.92432e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
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SIO_000300: 8.31e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6808
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 308
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

BaseQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -3.56e-2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 1.479289940828402e-4
allele num: 6760
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European (Non-Finnish)
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num of homozygotes: 0

Other
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FS
type: SiteQuality
SIO_000300: 1.119e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 7.98e-1

DP
type: SiteQuality
SIO_000300: 4.88946e5

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: -1.458e0

GenotypeQuality
all individuals: 3267
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.517911353976928e-4
allele num: 6588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.318e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 4.82829e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.56e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1084
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.828e1

VQSLOD
type: SiteQuality
SIO_000300: -2.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 4.71418e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.194907813871817e-4
allele num: 13668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.71529e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.639e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

GenotypeQuality
all individuals: 1485
bin: 3.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.578531965272297e-4
allele num: 12670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.881422924901185e-4
allele num: 1012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.80635838150289e-4
allele num: 5536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.79e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.57735e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 8.093999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.658e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2008
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.847063169560399e-4
allele num: 5414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1020
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

DP
type: SiteQuality
SIO_000300: 4.52466e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.65e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 6.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3253
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
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variant carriers: 0

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

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5370
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.12e1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.61e-2

DP
type: SiteQuality
SIO_000300: 4.51127e5

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.956181533646322e-4
allele num: 5112
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.51048e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 8.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 167
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GenotypeQuality
all individuals: 3538
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12438
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 6.64e0

DP
type: SiteQuality
SIO_000300: 4.5058e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.317e0

QD
type: SiteQuality
SIO_000300: 7.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.92975685063682e-4
allele num: 5182
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2526
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.50213e5

MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.236e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.734e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.142e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.71e-1

GenotypeQuality
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variant carriers: 2

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.577038322031225e-4
allele num: 12682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.557e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 4.5204e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 9.56e0

VQSLOD
type: SiteQuality
SIO_000300: -3.323e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.48e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.086689309396733e-5
allele num: 12366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5056
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 4.47797e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

VQSLOD
type: SiteQuality
SIO_000300: -1.969e0

QD
type: SiteQuality
SIO_000300: 6.77e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.969397513547975e-5
allele num: 12548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.561e0

VQSLOD
type: SiteQuality
SIO_000300: -1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

DP
type: SiteQuality
SIO_000300: 4.50982e5

QD
type: SiteQuality
SIO_000300: 9.67e0

MQ
type: SiteQuality
SIO_000300: 5.609e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.927729772191673e-4
allele num: 5092
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

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

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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2526
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: 186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12486
num of homozygotes: 0

FS
type: SiteQuality
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QD
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MQRankSum
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.53e-2

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.52234e5

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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variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 1.603077909586406e-4
allele num: 12476
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.951e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 4.5033e5

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 4.755111745126011e-4
allele num: 12618
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.49e-2

FS
type: SiteQuality
SIO_000300: 7.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -4.69e-2

QD
type: SiteQuality
SIO_000300: 1.14e1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 4.54011e5

GenotypeQuality
all individuals: 1875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16527
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3685
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25539
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.898894154818325e-5
allele num: 12660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.52e-2

DP
type: SiteQuality
SIO_000300: 4.56693e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.849e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: -2.472e0

QD
type: SiteQuality
SIO_000300: 1.463e1

GenotypeQuality
all individuals: 25268
bin: 2.25e1
variant carriers: 30

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 16

GenotypeQuality
all individuals: 161
bin: 7.25e1
variant carriers: 24

GenotypeQuality
all individuals: 107
bin: 8.25e1
variant carriers: 37

GenotypeQuality
all individuals: 716
bin: 3.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3685
bin: 1.75e1
variant carriers: 20

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 32

GenotypeQuality
all individuals: 3185
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 586
bin: 9.75e1
variant carriers: 432

GenotypeQuality
all individuals: 1753
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 26

GenotypeQuality
all individuals: 138
bin: 7.75e1
variant carriers: 25

GenotypeQuality
all individuals: 16093
bin: 7.5e0
variant carriers: 10

GenotypeQuality
all individuals: 365
bin: 6.75e1
variant carriers: 21

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 32

GenotypeQuality
all individuals: 1833
bin: 6.25e1
variant carriers: 29

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 14

African
type: Population
allele count: 58
allele frequency: 2.253302253302253e-2
allele num: 2574
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.559414990859232e-2
allele num: 1094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 64
allele frequency: 4.965089216446858e-3
allele num: 12890
num of homozygotes: 0

East Asian
type: Population
allele count: 211
allele frequency: 1.204337899543379e-1
allele num: 1752
num of homozygotes: 6

Other
type: Population
allele count: 2
allele frequency: 1.063829787234043e-2
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 1.694915254237288e-2
allele num: 236
num of homozygotes: 0

South Asian
type: Population
allele count: 102
allele frequency: 1.924528301886792e-2
allele num: 5300
num of homozygotes: 4

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.249e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

DP
type: SiteQuality
SIO_000300: 4.60471e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16181
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 750
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2944
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27008
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.844337882700111e-4
allele num: 5422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.297794117647059e-4
allele num: 13056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1104
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.32e-2

QD
type: SiteQuality
SIO_000300: 9.02e0

DP
type: SiteQuality
SIO_000300: 4.63137e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.83e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 5.047e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
all individuals: 2195
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14735
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1352
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26215
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1724
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.259001161440186e-5
allele num: 13776
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

FS
type: SiteQuality
SIO_000300: 4.665e0

DP
type: SiteQuality
SIO_000300: 4.74734e5

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
all individuals: 856
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14637
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27263
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.135721421435707e-5
allele num: 14014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1202
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.265e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.06e-2

DP
type: SiteQuality
SIO_000300: 4.79758e5

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2277
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26532
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3926
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.846153846153846e-4
allele num: 2600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.154099298898269e-5
allele num: 13978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1754
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 4.80707e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.75e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 1.877e1

FS
type: SiteQuality
SIO_000300: 7.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14472
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26532
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3926
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.877e1

FS
type: SiteQuality
SIO_000300: 7.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 4.80707e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.75e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

GenotypeQuality
all individuals: 868
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14256
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.407063458561981e-4
allele num: 14214
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.41e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.5433e1

DP
type: SiteQuality
SIO_000300: 4.86225e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

GenotypeQuality
all individuals: 1920
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 142
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2184
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3034
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12894
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2217
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1042
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.75e1
variant carriers: 61

GenotypeQuality
all individuals: 532
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3417
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 155
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28963
bin: 2.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 3.230808994572241e-4
allele num: 15476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1946
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.252252252252252e-3
allele num: 1332
num of homozygotes: 0

African
type: Population
allele count: 53
allele frequency: 1.898280802292264e-2
allele num: 2792
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.075976622577669e-4
allele num: 6502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.336e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.77e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.16333e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

GenotypeQuality
all individuals: 759
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12650
bin: 7.5e0
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GenotypeQuality
all individuals: 29931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2509
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 889
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 167
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2028
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.071428571428571e-3
allele num: 2800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 3.147821707378494e-4
allele num: 15884
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

DP
type: SiteQuality
SIO_000300: 5.2211e5

QD
type: SiteQuality
SIO_000300: 1.257e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 31010
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 11793
bin: 7.5e0
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GenotypeQuality
all individuals: 311
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GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4630
bin: 6.25e1
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GenotypeQuality
all individuals: 170
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GenotypeQuality
all individuals: 1867
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GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.006006006006006e-5
allele num: 16650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.15e-2

FS
type: SiteQuality
SIO_000300: 8.811e0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

DP
type: SiteQuality
SIO_000300: 5.39632e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.004e1

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 182
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2192
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
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variant carriers: 0

GenotypeQuality
all individuals: 31010
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 1

GenotypeQuality
all individuals: 1867
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11793
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 4630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 627
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 5.069124423963134e-3
allele num: 2170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2852
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

QD
type: SiteQuality
SIO_000300: 1.004e1

FS
type: SiteQuality
SIO_000300: 8.811e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 5.39632e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 31812
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
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variant carriers: 0

GenotypeQuality
all individuals: 10665
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variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
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variant carriers: 0

GenotypeQuality
all individuals: 5338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
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variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 715
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variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 188
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.674080798910577e-5
allele num: 17624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.354e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.62958e5

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.362e0

GenotypeQuality
all individuals: 705
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 352
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GenotypeQuality
all individuals: 2134
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 2

GenotypeQuality
all individuals: 1770
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variant carriers: 0

GenotypeQuality
all individuals: 189
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GenotypeQuality
all individuals: 786
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variant carriers: 0

GenotypeQuality
all individuals: 96
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 275
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5502
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
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GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.320422535211268e-3
allele num: 2272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.639521768554027e-5
allele num: 17732
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 1.574e1

VQSLOD
type: SiteQuality
SIO_000300: -1.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 5.67679e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
all individuals: 1264
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 477
bin: 2.5e0
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GenotypeQuality
all individuals: 759
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GenotypeQuality
all individuals: 2098
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GenotypeQuality
all individuals: 5744
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variant carriers: 0

GenotypeQuality
all individuals: 1967
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variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
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variant carriers: 2

GenotypeQuality
all individuals: 10361
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GenotypeQuality
all individuals: 195
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variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 5.25e1
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GenotypeQuality
all individuals: 211
bin: 7.25e1
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GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 278
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18132
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.119951040391676e-4
allele num: 1634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.72004e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.455e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.29e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

GenotypeQuality
all individuals: 2084
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 4.75e1
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GenotypeQuality
all individuals: 361
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9964
bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
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GenotypeQuality
all individuals: 275
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 7.75e1
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GenotypeQuality
all individuals: 1753
bin: 3.25e1
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GenotypeQuality
all individuals: 1178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.301744337412132e-4
allele num: 7682
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1714
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 18608
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.937e0

MQ
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SIO_000300: 5.897e1

DP
type: SiteQuality
SIO_000300: 5.814e5

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 2.175e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.508e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 2430
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 5.29829394934831e-5
allele num: 18874
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.138952164009112e-3
allele num: 1756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
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VQSLOD
type: SiteQuality
SIO_000300: -2.028e0

MQRankSum
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SIO_000300: 8.8e-1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.13e-2

FS
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.833e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 1830
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 4.006410256410256e-4
allele num: 2496
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 19652
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.473e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -2.02e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.473e0

BaseQRankSum
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SIO_000300: -1.12e0

QD
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VQSLOD
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SIO_000300: -2.045e0

DP
type: SiteQuality
SIO_000300: 5.97133e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.968253968253968e-4
allele num: 2520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -2.147e0

QD
type: SiteQuality
SIO_000300: 1.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.591e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

DP
type: SiteQuality
SIO_000300: 6.0e5

GenotypeQuality
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variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2588
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.027e0

DP
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
type: SiteQuality
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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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 3.863987635239567e-4
allele num: 2588
num of homozygotes: 0

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

Other
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South Asian
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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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InbreedingCoeff
type: SiteQuality
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QD
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.81370944449793e-5
allele num: 20774
num of homozygotes: 0

East Asian
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Latino
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Other
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
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MQ
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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DP
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FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21306
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3172
num of homozygotes: 0

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

East Asian
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allele count: 6
allele frequency: 2.243829468960359e-3
allele num: 2674
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
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SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 8.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.906e0

DP
type: SiteQuality
SIO_000300: 6.17057e5

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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variant carriers: 1

South Asian
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allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3202
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2688
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21476
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.077e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.83e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2078
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 9.125752874612155e-5
allele num: 21916
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

Other
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
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SIO_000300: -1.359e0

FS
type: SiteQuality
SIO_000300: 2.239e0

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

DP
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

QD
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SIO_000300: 1.272e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 20280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.04e0

DP
type: SiteQuality
SIO_000300: 6.18335e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.616e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.015434606011373e-4
allele num: 19696
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.19215e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
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SIO_000300: -6.14e-1

FS
type: SiteQuality
SIO_000300: 2.639e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2692
num of homozygotes: 0

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

South Asian
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allele 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: 2020
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Other
type: Population
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allele num: 280
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.473622163277336e-4
allele num: 20358
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele 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 (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
type: Population
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allele frequency: 5.038759689922481e-3
allele num: 2580
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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num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 3.856908687686819e-4
allele num: 20742
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9953
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1976
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1042
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 8.460236886632825e-4
allele num: 2364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2870
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.594743613306377e-5
allele num: 21764
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.502e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.311e0

FS
type: SiteQuality
SIO_000300: 1.917e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 6.14478e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 1167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 458
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 372
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10024
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 339
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6428
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 3.187904180708625e-4
allele num: 21958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2968
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.692047377326565e-3
allele num: 2364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.060728744939271e-4
allele num: 1976
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.15296e5

FS
type: SiteQuality
SIO_000300: 1.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

QD
type: SiteQuality
SIO_000300: 1.098e1

GenotypeQuality
all individuals: 465
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3193
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27068
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6415
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2098
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.266211604095563e-4
allele num: 2344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.012256669069935e-5
allele num: 22192
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 1.742e0

QD
type: SiteQuality
SIO_000300: 1.203e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 6.16213e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26831
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
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variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10007
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 717
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.332755632582322e-4
allele num: 2308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.1723e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.14e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

GenotypeQuality
all individuals: 486
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.75e1
variant carriers: 37

GenotypeQuality
all individuals: 1199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1083
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 240
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1964
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 451
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 391
bin: 7.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.233538818904673e-4
allele num: 22386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2974
num of homozygotes: 0

South Asian
type: Population
allele count: 36
allele frequency: 3.967379325545515e-3
allele num: 9074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 6.20418e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.95e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

GenotypeQuality
all individuals: 581
bin: 7.75e1
variant carriers: 468

GenotypeQuality
all individuals: 1311
bin: 3.25e1
variant carriers: 808

GenotypeQuality
all individuals: 6602
bin: 7.5e0
variant carriers: 349

GenotypeQuality
all individuals: 898
bin: 3.75e1
variant carriers: 627

GenotypeQuality
all individuals: 16963
bin: 2.25e1
variant carriers: 923

GenotypeQuality
all individuals: 991
bin: 6.75e1
variant carriers: 502

GenotypeQuality
all individuals: 537
bin: 5.75e1
variant carriers: 473

GenotypeQuality
all individuals: 1269
bin: 2.75e1
variant carriers: 588

GenotypeQuality
all individuals: 1866
bin: 1.75e1
variant carriers: 888

GenotypeQuality
all individuals: 728
bin: 4.75e1
variant carriers: 629

GenotypeQuality
all individuals: 4250
bin: 2.5e0
variant carriers: 107

GenotypeQuality
all individuals: 640
bin: 5.25e1
variant carriers: 567

GenotypeQuality
all individuals: 730
bin: 9.25e1
variant carriers: 705

GenotypeQuality
all individuals: 12760
bin: 9.75e1
variant carriers: 12684

GenotypeQuality
all individuals: 506
bin: 7.25e1
variant carriers: 382

GenotypeQuality
all individuals: 462
bin: 4.25e1
variant carriers: 379

GenotypeQuality
all individuals: 589
bin: 8.25e1
variant carriers: 534

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 661

European (Non-Finnish)
type: Population
allele count: 13251
allele frequency: 4.461315736314053e-1
allele num: 29702
num of homozygotes: 2239

Other
type: Population
allele count: 126
allele frequency: 3.519553072625698e-1
allele num: 358
num of homozygotes: 14

South Asian
type: Population
allele count: 3197
allele frequency: 3.21241961414791e-1
allele num: 9952
num of homozygotes: 456

African
type: Population
allele count: 736
allele frequency: 2.212868310282622e-1
allele num: 3326
num of homozygotes: 46

Latino
type: Population
allele count: 900
allele frequency: 3.370786516853932e-1
allele num: 2670
num of homozygotes: 90

European (Finnish)
type: Population
allele count: 531
allele frequency: 4.775179856115108e-1
allele num: 1112
num of homozygotes: 84

East Asian
type: Population
allele count: 125
allele frequency: 5.230125523012552e-2
allele num: 2390
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.709e1

DP
type: SiteQuality
SIO_000300: 7.45002e5

VQSLOD
type: SiteQuality
SIO_000300: 6.88e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.069999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

GenotypeQuality
all individuals: 1381
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11050
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30014
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.508566275924256e-5
allele num: 22180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3002
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.19843e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

QD
type: SiteQuality
SIO_000300: 1.681e1

GenotypeQuality
all individuals: 1558
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12359
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6328
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.07293e5

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 6.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.884e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 388
bin: 9.75e1
variant carriers: 31