7-56142306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142306
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142306
    reference: chr 7
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.412G>A
  hgvsp: ENSP00000395554.1:p.Glu138Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.412G>A
  hgvsp: ENSP00000406445.1:p.Glu138Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1502G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1502G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.469G>A
  hgvsp: ENSP00000341938.6:p.Glu157Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.478G>A
  hgvsp: ENSP00000414434.2:p.Glu160Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.148G>A
  hgvsp: ENSP00000275607.9:p.Glu50Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2221G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+395G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.424G>A
  hgvsp: ENSP00000378824.2:p.Glu142Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.469G>A
  hgvsp: ENSP00000400922.2:p.Glu157Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.463G>A
  hgvsp: ENSP00000410796.1:p.Glu155Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+395G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*99G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.392G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu157Lys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

7-56142307-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142307
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142307
    reference: chr 7
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+396A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1503A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*100A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.479A>G
  hgvsp: ENSP00000414434.2:p.Glu160Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.425A>G
  hgvsp: ENSP00000378824.2:p.Glu142Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.464A>G
  hgvsp: ENSP00000410796.1:p.Glu155Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.413A>G
  hgvsp: ENSP00000395554.1:p.Glu138Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.149A>G
  hgvsp: ENSP00000275607.9:p.Glu50Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+396A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.470A>G
  hgvsp: ENSP00000400922.2:p.Glu157Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.470A>G
  hgvsp: ENSP00000341938.6:p.Glu157Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.393A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1503A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2220A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.413A>G
  hgvsp: ENSP00000406445.1:p.Glu138Gly
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu157Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

7-56142318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142318
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142318
    reference: chr 7
allele count: 6
allele frequency: 4.945109286915241e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.490C>T
  hgvsp: ENSP00000414434.2:p.His164Tyr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1514C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.475C>T
  hgvsp: ENSP00000410796.1:p.His159Tyr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.424C>T
  hgvsp: ENSP00000406445.1:p.His142Tyr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.424C>T
  hgvsp: ENSP00000395554.1:p.His142Tyr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.436C>T
  hgvsp: ENSP00000378824.2:p.His146Tyr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.404C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+407C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.481C>T
  hgvsp: ENSP00000400922.2:p.His161Tyr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*111C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2209C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.160C>T
  hgvsp: ENSP00000275607.9:p.His54Tyr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+407C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1514C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.481C>T
  hgvsp: ENSP00000341938.6:p.His161Tyr
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His161Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

7-56142321-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142321
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142321
    reference: chr 7
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.427C>G
  hgvsp: ENSP00000395554.1:p.Pro143Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2206C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.407C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+410C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*114C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.484C>G
  hgvsp: ENSP00000400922.2:p.Pro162Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+410C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1517C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.478C>G
  hgvsp: ENSP00000410796.1:p.Pro160Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.427C>G
  hgvsp: ENSP00000406445.1:p.Pro143Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.439C>G
  hgvsp: ENSP00000378824.2:p.Pro147Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.484C>G
  hgvsp: ENSP00000341938.6:p.Pro162Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1517C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.493C>G
  hgvsp: ENSP00000414434.2:p.Pro165Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.163C>G
  hgvsp: ENSP00000275607.9:p.Pro55Ala
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro162Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-56142330-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142330
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142330
    reference: chr 7
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2197C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.416C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.502C>G
  hgvsp: ENSP00000414434.2:p.His168Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.436C>G
  hgvsp: ENSP00000406445.1:p.His146Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*123C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1526C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.172C>G
  hgvsp: ENSP00000275607.9:p.His58Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.448C>G
  hgvsp: ENSP00000378824.2:p.His150Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.493C>G
  hgvsp: ENSP00000341938.6:p.His165Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.436C>G
  hgvsp: ENSP00000395554.1:p.His146Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.493C>G
  hgvsp: ENSP00000400922.2:p.His165Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+419C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1526C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+419C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.487C>G
  hgvsp: ENSP00000410796.1:p.His163Asp
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His165Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

7-56142332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142332
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142332
    reference: chr 7
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.450C>T
  hgvsp: ENST00000395436.2:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.418C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.495C>T
  hgvsp: ENST00000434526.2:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*125C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+421C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.489C>T
  hgvsp: ENST00000451338.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+421C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1528C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438C>T
  hgvsp: ENST00000447501.1:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.438C>T
  hgvsp: ENST00000413756.1:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.504C>T
  hgvsp: ENST00000413952.2:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.495C>T
  hgvsp: ENST00000342190.6:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2195C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1528C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.174C>T
  hgvsp: ENST00000275607.9:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.438C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

7-56142333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142333
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142333
    reference: chr 7
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.496G>A
  hgvsp: ENSP00000341938.6:p.Val166Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2194G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+422G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.505G>A
  hgvsp: ENSP00000414434.2:p.Val169Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.490G>A
  hgvsp: ENSP00000410796.1:p.Val164Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.175G>A
  hgvsp: ENSP00000275607.9:p.Val59Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1529G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.419G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+1G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1529G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.496G>A
  hgvsp: ENSP00000400922.2:p.Val166Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.451G>A
  hgvsp: ENSP00000378824.2:p.Val151Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+422G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.439G>A
  hgvsp: ENSP00000406445.1:p.Val147Met
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.438+1G>A
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: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-56142337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142337
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142337
    reference: chr 7
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.423G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2190G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.455G>A
  hgvsp: ENSP00000378824.2:p.Ser152Asn
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.494G>A
  hgvsp: ENSP00000410796.1:p.Ser165Asn
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.179G>A
  hgvsp: ENSP00000275607.9:p.Ser60Asn
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.509G>A
  hgvsp: ENSP00000414434.2:p.Ser170Asn
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1533G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.500G>A
  hgvsp: ENSP00000400922.2:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+5G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+426G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+426G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1533G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*130G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.500G>A
  hgvsp: ENSP00000341938.6:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.443G>A
  hgvsp: ENSP00000406445.1:p.Ser148Asn
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser167Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

7-56142337-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142337
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142337
    reference: chr 7
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.494G>C
  hgvsp: ENSP00000410796.1:p.Ser165Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1533G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.423G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+426G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.500G>C
  hgvsp: ENSP00000400922.2:p.Ser167Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+426G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.509G>C
  hgvsp: ENSP00000414434.2:p.Ser170Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2190G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.500G>C
  hgvsp: ENSP00000341938.6:p.Ser167Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.455G>C
  hgvsp: ENSP00000378824.2:p.Ser152Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1533G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.179G>C
  hgvsp: ENSP00000275607.9:p.Ser60Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.443G>C
  hgvsp: ENSP00000406445.1:p.Ser148Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+5G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*130G>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser167Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

7-56142341-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142341
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142341
    reference: chr 7
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+430G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2186G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.504G>T
  hgvsp: ENSP00000400922.2:p.Trp168Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.513G>T
  hgvsp: ENSP00000414434.2:p.Trp171Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.447G>T
  hgvsp: ENSP00000406445.1:p.Trp149Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.459G>T
  hgvsp: ENSP00000378824.2:p.Trp153Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.427G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*134G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+430G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.498G>T
  hgvsp: ENSP00000410796.1:p.Trp166Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.183G>T
  hgvsp: ENSP00000275607.9:p.Trp61Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1537G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1537G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.504G>T
  hgvsp: ENSP00000341938.6:p.Trp168Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+9G>T
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp168Cys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-56142343-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142343
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142343
    reference: chr 7
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+432A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.449A>C
  hgvsp: ENSP00000406445.1:p.Asn150Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.515A>C
  hgvsp: ENSP00000414434.2:p.Asn172Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.429A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.506A>C
  hgvsp: ENSP00000341938.6:p.Asn169Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1539A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.500A>C
  hgvsp: ENSP00000410796.1:p.Asn167Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.185A>C
  hgvsp: ENSP00000275607.9:p.Asn62Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.461A>C
  hgvsp: ENSP00000378824.2:p.Asn154Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+432A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.506A>C
  hgvsp: ENSP00000400922.2:p.Asn169Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1539A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2184A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+11A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*136A>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn169Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

7-56142344-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142344
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142344
    reference: chr 7
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.450T>C
  hgvsp: ENST00000413756.1:c.450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*137T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2183T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1540T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.507T>C
  hgvsp: ENST00000434526.2:c.507T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.516T>C
  hgvsp: ENST00000413952.2:c.516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+12T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.186T>C
  hgvsp: ENST00000275607.9:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.501T>C
  hgvsp: ENST00000451338.1:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+433T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.462T>C
  hgvsp: ENST00000395436.2:c.462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+433T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.430T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.507T>C
  hgvsp: ENST00000342190.6:c.507T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1540T>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn169Asn
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-56142347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142347
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142347
    reference: chr 7
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.189C>T
  hgvsp: ENST00000275607.9:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*140C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+436C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.453C>T
  hgvsp: ENST00000413756.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.504C>T
  hgvsp: ENST00000451338.1:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.510C>T
  hgvsp: ENST00000342190.6:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1543C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.519C>T
  hgvsp: ENST00000413952.2:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1543C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.510C>T
  hgvsp: ENST00000434526.2:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+436C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.465C>T
  hgvsp: ENST00000395436.2:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.433C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2180C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp170Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

7-56142356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142356
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142356
    reference: chr 7
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.519C>T
  hgvsp: ENST00000342190.6:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+445C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+24C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*149C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.528C>T
  hgvsp: ENST00000413952.2:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.474C>T
  hgvsp: ENST00000395436.2:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1552C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.198C>T
  hgvsp: ENST00000275607.9:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.462C>T
  hgvsp: ENST00000413756.1:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+445C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1552C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.513C>T
  hgvsp: ENST00000451338.1:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.519C>T
  hgvsp: ENST00000434526.2:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.442C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2171C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala173Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-56142357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142357
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142357
    reference: chr 7
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.529T>C
  hgvsp: ENSP00000414434.2:p.Tyr177His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*150T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1553T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.443T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.520T>C
  hgvsp: ENSP00000341938.6:p.Tyr174His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+446T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.514T>C
  hgvsp: ENSP00000410796.1:p.Tyr172His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.475T>C
  hgvsp: ENSP00000378824.2:p.Tyr159His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.199T>C
  hgvsp: ENSP00000275607.9:p.Tyr67His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1553T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.463T>C
  hgvsp: ENSP00000406445.1:p.Tyr155His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.520T>C
  hgvsp: ENSP00000400922.2:p.Tyr174His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2170T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+446T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+25T>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr174His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

7-56142370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142370
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142370
    reference: chr 7
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+459G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.488G>A
  hgvsp: ENSP00000378824.2:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.527G>A
  hgvsp: ENSP00000410796.1:p.Arg176Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2157G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*163G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.533G>A
  hgvsp: ENSP00000341938.6:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.542G>A
  hgvsp: ENSP00000414434.2:p.Arg181Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.212G>A
  hgvsp: ENSP00000275607.9:p.Arg71Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.533G>A
  hgvsp: ENSP00000400922.2:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+38G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1566G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.476G>A
  hgvsp: ENSP00000406445.1:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1566G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+459G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.456G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg178Gln
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

7-56142373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142373
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142373
    reference: chr 7
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+462G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*166G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1569G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.536G>A
  hgvsp: ENSP00000341938.6:p.Gly179Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.536G>A
  hgvsp: ENSP00000400922.2:p.Gly179Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1569G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2154G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.545G>A
  hgvsp: ENSP00000414434.2:p.Gly182Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.530G>A
  hgvsp: ENSP00000410796.1:p.Gly177Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.491G>A
  hgvsp: ENSP00000378824.2:p.Gly164Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.479G>A
  hgvsp: ENSP00000406445.1:p.Gly160Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.215G>A
  hgvsp: ENSP00000275607.9:p.Gly72Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+462G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.459G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+41G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly179Glu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-56142382-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142382
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142382
    reference: chr 7
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+50T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.545T>A
  hgvsp: ENSP00000341938.6:p.Leu182Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*175T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.545T>A
  hgvsp: ENSP00000400922.2:p.Leu182Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.539T>A
  hgvsp: ENSP00000410796.1:p.Leu180Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.554T>A
  hgvsp: ENSP00000414434.2:p.Leu185Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.468T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.488T>A
  hgvsp: ENSP00000406445.1:p.Leu163Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.500T>A
  hgvsp: ENSP00000378824.2:p.Leu167Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2145T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+471T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1578T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1578T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.224T>A
  hgvsp: ENSP00000275607.9:p.Leu75Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+471T>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu182Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

7-56142388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142388
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142388
    reference: chr 7
allele count: 43
allele frequency: 3.543060545136943e-4
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.494C>T
  hgvsp: ENSP00000406445.1:p.Thr165Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*181C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1584C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.551C>T
  hgvsp: ENSP00000400922.2:p.Thr184Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.545C>T
  hgvsp: ENSP00000410796.1:p.Thr182Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+56C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.560C>T
  hgvsp: ENSP00000414434.2:p.Thr187Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.230C>T
  hgvsp: ENSP00000275607.9:p.Thr77Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.551C>T
  hgvsp: ENSP00000341938.6:p.Thr184Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1584C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.474C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2139C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+477C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.506C>T
  hgvsp: ENSP00000378824.2:p.Thr169Met
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+477C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Thr184Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

7-56142389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142389
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142389
    reference: chr 7
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.552G>A
  hgvsp: ENST00000342190.6:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+478G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.561G>A
  hgvsp: ENST00000413952.2:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.546G>A
  hgvsp: ENST00000451338.1:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+57G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*182G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1585G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2138G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.231G>A
  hgvsp: ENST00000275607.9:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+478G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.495G>A
  hgvsp: ENST00000413756.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.475G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.552G>A
  hgvsp: ENST00000434526.2:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1585G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.507G>A
  hgvsp: ENST00000395436.2:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr184Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-56142392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142392
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142392
    reference: chr 7
allele count: 5
allele frequency: 4.120177332432388e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*185G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.564G>A
  hgvsp: ENST00000413952.2:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.498G>A
  hgvsp: ENST00000413756.1:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2135G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1588G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.234G>A
  hgvsp: ENST00000275607.9:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+481G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1588G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+481G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.478G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.555G>A
  hgvsp: ENST00000434526.2:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.510G>A
  hgvsp: ENST00000395436.2:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.549G>A
  hgvsp: ENST00000451338.1:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.555G>A
  hgvsp: ENST00000342190.6:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+60G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu185Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

7-56142393-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142393
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142393
    reference: chr 7
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+482G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+61G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.511G>T
  hgvsp: ENSP00000378824.2:p.Glu171Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.479G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.499G>T
  hgvsp: ENSP00000406445.1:p.Glu167Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.565G>T
  hgvsp: ENSP00000414434.2:p.Glu189Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1589G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.556G>T
  hgvsp: ENSP00000341938.6:p.Glu186Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.235G>T
  hgvsp: ENSP00000275607.9:p.Glu79Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*186G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.556G>T
  hgvsp: ENSP00000400922.2:p.Glu186Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+482G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2134G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1589G>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.550G>T
  hgvsp: ENSP00000410796.1:p.Glu184Ter
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu186Ter
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

7-56142397-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142397
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142397
    reference: chr 7
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.239A>G
  hgvsp: ENSP00000275607.9:p.Glu80Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+486A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.569A>G
  hgvsp: ENSP00000414434.2:p.Glu190Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+486A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.483A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.554A>G
  hgvsp: ENSP00000410796.1:p.Glu185Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1593A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*190A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.515A>G
  hgvsp: ENSP00000378824.2:p.Glu172Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.503A>G
  hgvsp: ENSP00000406445.1:p.Glu168Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.560A>G
  hgvsp: ENSP00000341938.6:p.Glu187Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.560A>G
  hgvsp: ENSP00000400922.2:p.Glu187Gly
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+65A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1593A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2130A>G
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu187Gly
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

7-56142400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142400
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142400
    reference: chr 7
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+489G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.563G>A
  hgvsp: ENSP00000341938.6:p.Trp188Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.518G>A
  hgvsp: ENSP00000378824.2:p.Trp173Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+68G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.486G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.242G>A
  hgvsp: ENSP00000275607.9:p.Trp81Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.563G>A
  hgvsp: ENSP00000400922.2:p.Trp188Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.557G>A
  hgvsp: ENSP00000410796.1:p.Trp186Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1596G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+489G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.506G>A
  hgvsp: ENSP00000406445.1:p.Trp169Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.572G>A
  hgvsp: ENSP00000414434.2:p.Trp191Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*193G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2127G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1596G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Trp188Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

7-56142414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142414
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142414
    reference: chr 7
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+503C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+82C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.577C>T
  hgvsp: ENSP00000341938.6:p.Arg193Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.532C>T
  hgvsp: ENSP00000378824.2:p.Arg178Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1610C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+503C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.571C>T
  hgvsp: ENSP00000410796.1:p.Arg191Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.520C>T
  hgvsp: ENSP00000406445.1:p.Arg174Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*207C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.586C>T
  hgvsp: ENSP00000414434.2:p.Arg196Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.577C>T
  hgvsp: ENSP00000400922.2:p.Arg193Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.256C>T
  hgvsp: ENSP00000275607.9:p.Arg86Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2113C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1610C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.500C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg193Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

7-56142415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142415
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142415
    reference: chr 7
allele count: 14
allele frequency: 1.154410673351254e-4
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.587G>A
  hgvsp: ENSP00000414434.2:p.Arg196Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.578G>A
  hgvsp: ENSP00000341938.6:p.Arg193Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.578G>A
  hgvsp: ENSP00000400922.2:p.Arg193Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1611G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.257G>A
  hgvsp: ENSP00000275607.9:p.Arg86Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2112G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.572G>A
  hgvsp: ENSP00000410796.1:p.Arg191Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.501G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*208G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+83G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.521G>A
  hgvsp: ENSP00000406445.1:p.Arg174Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+504G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.533G>A
  hgvsp: ENSP00000378824.2:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1611G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+504G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg193Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

7-56142415-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142415
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142415
    reference: chr 7
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.501G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.521G>C
  hgvsp: ENSP00000406445.1:p.Arg174Pro
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.578G>C
  hgvsp: ENSP00000400922.2:p.Arg193Pro
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.257G>C
  hgvsp: ENSP00000275607.9:p.Arg86Pro
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1611G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+504G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1611G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2112G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.572G>C
  hgvsp: ENSP00000410796.1:p.Arg191Pro
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.578G>C
  hgvsp: ENSP00000341938.6:p.Arg193Pro
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.587G>C
  hgvsp: ENSP00000414434.2:p.Arg196Pro
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*208G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.533G>C
  hgvsp: ENSP00000378824.2:p.Arg178Pro
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+504G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+83G>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg193Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

7-56142421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142421
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142421
    reference: chr 7
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.593G>A
  hgvsp: ENSP00000414434.2:p.Gly198Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.527G>A
  hgvsp: ENSP00000406445.1:p.Gly176Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.584G>A
  hgvsp: ENSP00000400922.2:p.Gly195Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1617G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.539G>A
  hgvsp: ENSP00000378824.2:p.Gly180Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.584G>A
  hgvsp: ENSP00000341938.6:p.Gly195Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.263G>A
  hgvsp: ENSP00000275607.9:p.Gly88Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+510G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.578G>A
  hgvsp: ENSP00000410796.1:p.Gly193Asp
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*214G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+510G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2106G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+89G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.507G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1617G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly195Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum

7-56142421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142421
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142421
    reference: chr 7
allele count: 3
allele frequency: 2.474634991338777e-5
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.584G>C
  hgvsp: ENSP00000341938.6:p.Gly195Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.578G>C
  hgvsp: ENSP00000410796.1:p.Gly193Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1617G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.539G>C
  hgvsp: ENSP00000378824.2:p.Gly180Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.263G>C
  hgvsp: ENSP00000275607.9:p.Gly88Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+510G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.584G>C
  hgvsp: ENSP00000400922.2:p.Gly195Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2106G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.593G>C
  hgvsp: ENSP00000414434.2:p.Gly198Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+510G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*214G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.527G>C
  hgvsp: ENSP00000406445.1:p.Gly176Ala
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.507G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1617G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+89G>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly195Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

7-56142423-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142423
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142423
    reference: chr 7
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.595T>C
  hgvsp: ENST00000413952.2:c.595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.509T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+512T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.586T>C
  hgvsp: ENST00000342190.6:c.586T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.586T>C
  hgvsp: ENST00000434526.2:c.586T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.580T>C
  hgvsp: ENST00000451338.1:c.580T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.529T>C
  hgvsp: ENST00000413756.1:c.529T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+91T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1619T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1619T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*216T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.265T>C
  hgvsp: ENST00000275607.9:c.265T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.541T>C
  hgvsp: ENST00000395436.2:c.541T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2104T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+512T>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu196Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-56142429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142429
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142429
    reference: chr 7
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.271G>A
  hgvsp: ENSP00000275607.9:p.Gly91Ser
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1625G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+518G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.601G>A
  hgvsp: ENSP00000414434.2:p.Gly201Ser
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2098G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*222G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+518G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1625G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.515G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.547G>A
  hgvsp: ENSP00000378824.2:p.Gly183Ser
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+97G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.592G>A
  hgvsp: ENSP00000341938.6:p.Gly198Ser
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.535G>A
  hgvsp: ENSP00000406445.1:p.Gly179Ser
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.592G>A
  hgvsp: ENSP00000400922.2:p.Gly198Ser
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.586G>A
  hgvsp: ENSP00000410796.1:p.Gly196Ser
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly198Ser
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

7-56142448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142448
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142448
    reference: chr 7
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*222+19G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2079G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.271+19G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.534G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1644G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.547+19G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.601+19G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+537G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.535+19G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+116G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.586+19G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.592+19G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+537G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.592+19G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1644G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-56142459-ATTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142459
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142456
    reference: chr 7
allele count: 2
allele frequency: 1.660853678790898e-5
allele num: 120420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.601+35_601+37delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.592+35_592+37delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1660_339+1662delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.271+35_271+37delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.586+35_586+37delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+553_384+555delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.547+35_547+37delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2063_225-2061delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+132_438+134delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*222+35_*222+37delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.592+35_592+37delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.550_552delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+553_384+555delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1660_396+1662delTCT
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.535+35_535+37delTCT
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10816
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: ATTC
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

7-56142461-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142461
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142461
    reference: chr 7
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+550T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.547+32T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.592+32T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1657T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.547T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.271+32T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.535+32T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.586+32T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*222+32T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+129T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2066T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1657T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.592+32T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+550T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.601+32T>G
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

7-56142474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56142474
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56142474
    reference: chr 7
allele count: 1
allele frequency: 8.38208915190022e-6
allele num: 119302
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.592+45C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.339+1670C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.535+45C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.396+1670C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.384+563C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.592+45C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*222+45C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.384+563C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.271+45C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.547+45C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000529457
  gene symbol: SUMF2
  hgvsc: ENST00000529457.1:n.560C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.438+142C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.601+45C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.586+45C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-2053C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

7-56144481-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144481
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144481
    reference: chr 7
allele count: 1
allele frequency: 8.3948959032908e-6
allele num: 119120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.186A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1314A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.261A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-46A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1314A>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-46A>T
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-56144487-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144487
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144487
    reference: chr 7
allele count: 1
allele frequency: 8.384197464618687e-6
allele num: 119272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.267C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.192C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1308C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1308C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-40C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-40C>G
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

7-56144488-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144488
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144488
    reference: chr 7
allele count: 1
allele frequency: 8.376331836762046e-6
allele num: 119384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.268A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1307A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1307A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.193A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-39A>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-39A>G
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

7-56144491-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144491
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144490
    reference: chr 7
allele count: 1
allele frequency: 8.366940544520491e-6
allele num: 119518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.276delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.201delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1299delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1299delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-31delC
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-31delC
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: TC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

7-56144493-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144493
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144493
    reference: chr 7
allele count: 6
allele frequency: 5.015632053232575e-5
allele num: 119626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.198C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.273C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1302C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1302C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-34C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-34C>G
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

7-56144493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144493
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144493
    reference: chr 7
allele count: 1
allele frequency: 8.359386755387625e-6
allele num: 119626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.273C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.198C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1302C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1302C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-34C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-34C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

7-56144505-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144505
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144505
    reference: chr 7
allele count: 1
allele frequency: 8.327642777435419e-6
allele num: 120082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1290T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.285T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1290T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.210T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-22T>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-22T>A
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

7-56144510-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144510
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144510
    reference: chr 7
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.215C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1285C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1285C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.290C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-17C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-17C>G
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-56144517-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144517
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144517
    reference: chr 7
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1278C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1278C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.222C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.297C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-10C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-10C>G
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

7-56144522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144522
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144522
    reference: chr 7
allele count: 8
allele frequency: 6.631189801230086e-5
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.227C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1273C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.302C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-5C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1273C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-5C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.593-5C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

7-56144523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144523
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144523
    reference: chr 7
allele count: 44
allele frequency: 3.646308113035552e-4
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.225-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.548-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.272-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.593-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.593-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.385-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.536-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.587-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.340-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.228G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*223-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1272G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.439-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.602-4G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.303G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1272G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.593-4G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/7-56144529-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144529
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144529
    reference: chr 7
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.227C>A
  hgvsp: ENSP00000407954.1:p.Ser76Ter
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.604C>A
  hgvsp: ENSP00000414434.2:p.Gln202Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.538C>A
  hgvsp: ENSP00000406445.1:p.Gln180Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.595C>A
  hgvsp: ENSP00000400922.2:p.Gln199Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.441C>A
  hgvsp: ENST00000447501.1:c.441C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*225C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.550C>A
  hgvsp: ENSP00000378824.2:p.Gln184Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.309C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.589C>A
  hgvsp: ENSP00000410796.1:p.Gln197Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.274C>A
  hgvsp: ENSP00000275607.9:p.Gln92Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.595C>A
  hgvsp: ENSP00000341938.6:p.Gln199Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1266C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.387C>A
  hgvsp: ENST00000423763.1:c.387C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.234C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1266C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.342C>A
  hgvsp: ENST00000438133.1:c.342C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser76Ter
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-56144532-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144532
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144532
    reference: chr 7
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.230G>C
  hgvsp: ENSP00000407954.1:p.Ser77Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.312G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1263G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.598G>C
  hgvsp: ENSP00000341938.6:p.Val200Leu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.553G>C
  hgvsp: ENSP00000378824.2:p.Val185Leu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.345G>C
  hgvsp: ENSP00000393423.1:p.Lys115Asn
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.444G>C
  hgvsp: ENSP00000395554.1:p.Lys148Asn
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.390G>C
  hgvsp: ENSP00000407832.1:p.Lys130Asn
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.277G>C
  hgvsp: ENSP00000275607.9:p.Val93Leu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1263G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.541G>C
  hgvsp: ENSP00000406445.1:p.Val181Leu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.592G>C
  hgvsp: ENSP00000410796.1:p.Val198Leu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*228G>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.598G>C
  hgvsp: ENSP00000400922.2:p.Val200Leu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.607G>C
  hgvsp: ENSP00000414434.2:p.Val203Leu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.237G>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val200Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

7-56144534-T-TTACCCATGGGGGAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144534
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144549
    reference: chr 7
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: TTACCCATGGGGGAAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsp: ENSP00000400922.2:p.Tyr201_Asn205dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsp: ENSP00000393423.1:p.Thr117_Thr121dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsp: ENSP00000410796.1:p.Tyr199_Asn203dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsp: ENSP00000395554.1:p.Thr150_Thr154dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsp: ENSP00000275607.9:p.Tyr94_Asn98dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsp: ENSP00000378824.2:p.Tyr186_Asn190dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsp: ENSP00000407954.1:p.Pro79_Leu83dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsp: ENSP00000414434.2:p.Tyr204_Asn208dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsp: ENSP00000407832.1:p.Thr132_Thr136dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsp: ENSP00000406445.1:p.Tyr182_Asn186dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsp: ENSP00000341938.6:p.Tyr201_Asn205dup
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr201_Asn205dup
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

7-56144541-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144541
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144541
    reference: chr 7
allele count: 5
allele frequency: 4.134144728138642e-5
allele num: 120944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.601T>C
  hgvsp: ENSP00000410796.1:p.Trp201Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.286T>C
  hgvsp: ENSP00000275607.9:p.Trp96Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.607T>C
  hgvsp: ENSP00000341938.6:p.Trp203Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.246T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.354T>C
  hgvsp: ENST00000438133.1:c.354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1254T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.399T>C
  hgvsp: ENST00000423763.1:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.550T>C
  hgvsp: ENSP00000406445.1:p.Trp184Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.607T>C
  hgvsp: ENSP00000400922.2:p.Trp203Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.562T>C
  hgvsp: ENSP00000378824.2:p.Trp188Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.321T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*237T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.239T>C
  hgvsp: ENSP00000407954.1:p.Met80Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.453T>C
  hgvsp: ENST00000447501.1:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.616T>C
  hgvsp: ENSP00000414434.2:p.Trp206Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1254T>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp203Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

7-56144546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144546
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144546
    reference: chr 7
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.244G>A
  hgvsp: ENSP00000407954.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.458G>A
  hgvsp: ENSP00000395554.1:p.Gly153Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.567G>A
  hgvsp: ENST00000395436.2:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.359G>A
  hgvsp: ENSP00000393423.1:p.Gly120Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*242G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.606G>A
  hgvsp: ENST00000451338.1:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.251G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.621G>A
  hgvsp: ENST00000413952.2:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.612G>A
  hgvsp: ENST00000434526.2:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.612G>A
  hgvsp: ENST00000342190.6:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.404G>A
  hgvsp: ENSP00000407832.1:p.Gly135Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.326G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1249G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.291G>A
  hgvsp: ENST00000275607.9:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.555G>A
  hgvsp: ENST00000413756.1:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1249G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly135Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

7-56144555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144555
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144555
    reference: chr 7
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.300C>T
  hgvsp: ENST00000275607.9:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.260C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.630C>T
  hgvsp: ENST00000413952.2:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.615C>T
  hgvsp: ENST00000451338.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.621C>T
  hgvsp: ENST00000434526.2:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.413C>T
  hgvsp: ENSP00000407832.1:p.Ser138Phe
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.335C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.253C>T
  hgvsp: ENSP00000407954.1:p.Pro85Ser
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*251C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.621C>T
  hgvsp: ENST00000342190.6:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.467C>T
  hgvsp: ENSP00000395554.1:p.Ser156Phe
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.564C>T
  hgvsp: ENST00000413756.1:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.576C>T
  hgvsp: ENST00000395436.2:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1240C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1240C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.368C>T
  hgvsp: ENSP00000393423.1:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser138Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

7-56144560-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144560
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144560
    reference: chr 7
allele count: 104
allele frequency: 8.596178007009191e-4
allele num: 120984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.581C>G
  hgvsp: ENSP00000378824.2:p.Pro194Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.626C>G
  hgvsp: ENSP00000400922.2:p.Pro209Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.340C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.373C>G
  hgvsp: ENSP00000393423.1:p.Gln125Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.635C>G
  hgvsp: ENSP00000414434.2:p.Pro212Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.626C>G
  hgvsp: ENSP00000341938.6:p.Pro209Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.418C>G
  hgvsp: ENSP00000407832.1:p.Gln140Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.265C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.305C>G
  hgvsp: ENSP00000275607.9:p.Pro102Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.569C>G
  hgvsp: ENSP00000406445.1:p.Pro190Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1235C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.258C>G
  hgvsp: ENST00000436782.1:c.258C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.472C>G
  hgvsp: ENSP00000395554.1:p.Gln158Glu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1235C>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.620C>G
  hgvsp: ENSP00000410796.1:p.Pro207Arg
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*256C>G
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Pro209Arg
num of homozygotes: 1
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-56144565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144565
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144565
    reference: chr 7
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.345C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.625C>T
  hgvsp: ENSP00000410796.1:p.Arg209Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*261C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.586C>T
  hgvsp: ENSP00000378824.2:p.Arg196Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.270C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.574C>T
  hgvsp: ENSP00000406445.1:p.Arg192Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.631C>T
  hgvsp: ENSP00000400922.2:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.423C>T
  hgvsp: ENST00000423763.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.640C>T
  hgvsp: ENSP00000414434.2:p.Arg214Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.378C>T
  hgvsp: ENST00000438133.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.263C>T
  hgvsp: ENSP00000407954.1:p.Pro88Leu
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.310C>T
  hgvsp: ENSP00000275607.9:p.Arg104Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.477C>T
  hgvsp: ENST00000447501.1:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1230C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.631C>T
  hgvsp: ENSP00000341938.6:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1230C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg211Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

7-56144566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144566
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144566
    reference: chr 7
allele count: 117
allele frequency: 9.672619047619048e-4
allele num: 120960
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.632G>A
  hgvsp: ENSP00000341938.6:p.Arg211His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.424G>A
  hgvsp: ENSP00000407832.1:p.Ala142Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.311G>A
  hgvsp: ENSP00000275607.9:p.Arg104His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1229G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.478G>A
  hgvsp: ENSP00000395554.1:p.Ala160Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.626G>A
  hgvsp: ENSP00000410796.1:p.Arg209His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.641G>A
  hgvsp: ENSP00000414434.2:p.Arg214His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.632G>A
  hgvsp: ENSP00000400922.2:p.Arg211His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.575G>A
  hgvsp: ENSP00000406445.1:p.Arg192His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.271G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*262G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.346G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.264G>A
  hgvsp: ENST00000436782.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.379G>A
  hgvsp: ENSP00000393423.1:p.Ala127Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.587G>A
  hgvsp: ENSP00000378824.2:p.Arg196His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1229G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg211His
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

7-56144567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144567
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144567
    reference: chr 7
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.265C>T
  hgvsp: ENSP00000407954.1:p.His89Tyr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*263C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.627C>T
  hgvsp: ENST00000451338.1:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.347C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.633C>T
  hgvsp: ENST00000434526.2:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1228C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.272C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.576C>T
  hgvsp: ENST00000413756.1:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.425C>T
  hgvsp: ENSP00000407832.1:p.Ala142Val
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.642C>T
  hgvsp: ENST00000413952.2:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.588C>T
  hgvsp: ENST00000395436.2:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.380C>T
  hgvsp: ENSP00000393423.1:p.Ala127Val
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.479C>T
  hgvsp: ENSP00000395554.1:p.Ala160Val
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.633C>T
  hgvsp: ENST00000342190.6:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.312C>T
  hgvsp: ENST00000275607.9:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1228C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala142Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-56144572-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144572
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144572
    reference: chr 7
allele count: 11
allele frequency: 9.096321778248214e-5
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.647A>C
  hgvsp: ENSP00000414434.2:p.Asn216Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.638A>C
  hgvsp: ENSP00000400922.2:p.Asn213Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.484A>C
  hgvsp: ENSP00000395554.1:p.Thr162Pro
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.317A>C
  hgvsp: ENSP00000275607.9:p.Asn106Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*268A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.632A>C
  hgvsp: ENSP00000410796.1:p.Asn211Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.270A>C
  hgvsp: ENSP00000407954.1:p.Gln90His
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.430A>C
  hgvsp: ENSP00000407832.1:p.Thr144Pro
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.593A>C
  hgvsp: ENSP00000378824.2:p.Asn198Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.385A>C
  hgvsp: ENSP00000393423.1:p.Thr129Pro
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.581A>C
  hgvsp: ENSP00000406445.1:p.Asn194Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.277A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1223A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.638A>C
  hgvsp: ENSP00000341938.6:p.Asn213Thr
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1223A>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.352A>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn213Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

7-56144584-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144584
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144584
    reference: chr 7
allele count: 13
allele frequency: 1.078659143710587e-4
allele num: 120520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.362+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1211T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.280+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.657+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.287+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.395+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.327+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*278+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.642+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.591+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1211T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.648+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.648+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.494+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.603+2T>G
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.440+2T>G
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.648+2T>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-56144593-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144593
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144593
    reference: chr 7
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1202C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.287+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*278+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.657+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.440+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.362+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.280+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1202C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.395+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.642+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.648+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.648+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.603+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.591+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.494+11C>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.327+11C>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

7-56144593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144593
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144593
    reference: chr 7
allele count: 7
allele frequency: 5.809900069718801e-5
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.440+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1202C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.362+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.642+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.280+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.395+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.603+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.494+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.287+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.648+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1202C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*278+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.327+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.591+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.657+11C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.648+11C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

7-56144594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144594
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144594
    reference: chr 7
allele count: 5
allele frequency: 4.150410890678177e-5
allele num: 120470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.280+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1201G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1201G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.287+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.648+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.648+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.494+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*278+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.440+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.591+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.657+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.603+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.642+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.395+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.362+12G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.327+12G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-56144597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144597
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144597
    reference: chr 7
allele count: 2
allele frequency: 1.661543573980228e-5
allele num: 120370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.657+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.362+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*278+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.494+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.327+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.603+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.280+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.287+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1198C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.642+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1198C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.591+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.440+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.648+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.648+15C>T
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.395+15C>T
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-56144629-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56144629
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56144629
    reference: chr 7
allele count: 1
allele frequency: 8.379560575843403e-6
allele num: 119338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-1166T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.642+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.287+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.591+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.362+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*278+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.395+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.327+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.494+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.657+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-1166T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.603+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.648+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.280+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.648+47T>C
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.440+47T>C
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

7-56145754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56145754
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 56145754
    reference: chr 7
allele count: 1
allele frequency: 8.490550017830155e-6
allele num: 117778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378824
  ensembl transcript: ENST00000395436
  gene symbol: SUMF2
  hgvsc: ENST00000395436.2:c.604-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407832
  ensembl transcript: ENST00000423763
  gene symbol: SUMF2
  hgvsc: ENST00000423763.1:c.441-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415989
  ensembl transcript: ENST00000437307
  gene symbol: SUMF2
  hgvsc: ENST00000437307.2:c.385-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000341938
  ensembl transcript: ENST00000342190
  gene symbol: SUMF2
  hgvsc: ENST00000342190.6:c.649-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000461912
  gene symbol: SUMF2
  hgvsc: ENST00000461912.1:n.363-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000415322
  ensembl transcript: ENST00000452216
  gene symbol: SUMF2
  hgvsc: ENST00000452216.1:c.*279-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000410796
  ensembl transcript: ENST00000451338
  gene symbol: SUMF2
  hgvsc: ENST00000451338.1:c.643-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000400922
  ensembl transcript: ENST00000434526
  gene symbol: SUMF2
  hgvsc: ENST00000434526.2:c.649-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000395554
  ensembl transcript: ENST00000447501
  gene symbol: SUMF2
  hgvsc: ENST00000447501.1:c.495-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000378823
  ensembl transcript: ENST00000395435
  gene symbol: SUMF2
  hgvsc: ENST00000395435.2:c.397-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000414434
  ensembl transcript: ENST00000413952
  gene symbol: SUMF2
  hgvsc: ENST00000413952.2:c.658-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl transcript: ENST00000531229
  gene symbol: SUMF2
  hgvsc: ENST00000531229.1:n.288-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000407954
  ensembl transcript: ENST00000436782
  gene symbol: SUMF2
  hgvsc: ENST00000436782.1:c.281-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000393423
  ensembl transcript: ENST00000438133
  gene symbol: SUMF2
  hgvsc: ENST00000438133.1:c.396-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000406445
  ensembl transcript: ENST00000413756
  gene symbol: SUMF2
  hgvsc: ENST00000413756.1:c.592-41G>A
  variant of: http://identifiers.org/hgnc/20415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129103
  ensembl protein: ENSP00000275607
  ensembl transcript: ENST00000275607
  gene symbol: SUMF2
  hgvsc: ENST00000275607.9:c.328-41G>A
  variant of: http://identifiers.org/hgnc/20415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 573
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9102
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1474
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10526
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1006
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11217
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2582
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5404
bin: 4.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16705
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6061
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19546
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4325
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3855
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -8.95e-1

MQ
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SIO_000300: 5.954e1

MQRankSum
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SIO_000300: 4.58e-1

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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East Asian
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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DP
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VQSLOD
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FS
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QD
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -5.76e-1

MQRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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Latino
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DP
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FS
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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DP
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 4.946784590016489e-4
allele num: 66710
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MQRankSum
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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Other
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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DP
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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QD
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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South Asian
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MQRankSum
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BaseQRankSum
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MQ
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QD
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DP
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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African
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European (Non-Finnish)
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Latino
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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QD
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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European (Non-Finnish)
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African
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South Asian
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East Asian
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Latino
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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African
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Other
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VQSLOD
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DP
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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QD
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DP
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East Asian
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South Asian
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QD
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FS
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MQRankSum
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VQSLOD
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Non-Finnish)
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Other
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African
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South Asian
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FS
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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FS
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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African
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European (Finnish)
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Latino
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MQRankSum
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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South Asian
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East Asian
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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MQ
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QD
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VQSLOD
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GenotypeDepth
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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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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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.511715797430083e-5
allele num: 66150
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

DP
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SIO_000300: 2.577934e6

BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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SIO_000300: 7.221e0

MQRankSum
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SIO_000300: -1.1e-2

MQ
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SIO_000300: 6.0e1

QD
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ReadPosRankSum
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SIO_000300: -1.22e0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15124
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511121856866538e-5
allele num: 66176
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -3.896e0

FS
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ClippingRankSum
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SIO_000300: -3.38e-1

DP
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SIO_000300: 2.578788e6

MQRankSum
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MQ
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SIO_000300: 5.97e1

VQSLOD
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ReadPosRankSum
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SIO_000300: -6.8e-2

InbreedingCoeff
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SIO_000300: -1.0e-3

QD
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GenotypeDepth
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
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SIO_000300: 2.73e0

MQ
type: SiteQuality
SIO_000300: 6.04e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.582324e6

FS
type: SiteQuality
SIO_000300: 1.119e0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

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

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.038647342995169e-5
allele num: 66240
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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SIO_000300: 2.584866e6

MQ
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66240
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Latino
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African
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South Asian
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QD
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
type: SiteQuality
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-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
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Latino
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East Asian
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African
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European (Finnish)
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Other
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 2.597333e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15714
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

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

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

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

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

East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.926e0

ReadPosRankSum
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MQRankSum
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SIO_000300: -1.348e0

DP
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SIO_000300: 2.602216e6

MQ
type: SiteQuality
SIO_000300: 5.782e1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.737e0

VQSLOD
type: SiteQuality
SIO_000300: -1.903e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.141e1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
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SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.608278e6

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 1.039e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

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

South Asian
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allele count: 2
allele frequency: 1.250312578144536e-4
allele num: 15996
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.510464277122925e-5
allele num: 66512
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.468208092485549e-4
allele num: 8650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
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SIO_000300: -2.26e0

QD
type: SiteQuality
SIO_000300: 1.154e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.6118e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 4

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.509786236132407e-5
allele num: 66522
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

African
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allele count: 35
allele frequency: 3.365384615384616e-3
allele num: 10400
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 2.613724e6

FS
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SIO_000300: 1.212e0

VQSLOD
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SIO_000300: 1.98e0

QD
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SIO_000300: 1.26e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.851e1

DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

DP
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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SIO_000300: -7.66e-1

GenotypeDepth
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variant carriers: 0

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

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

European (Finnish)
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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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Latino
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

FS
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: -8.33e-1

MQ
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SIO_000300: 5.088e1

DP
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SIO_000300: 2.615529e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.508183920473317e-5
allele num: 66594
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
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SIO_000300: 5.03e-1

MQ
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SIO_000300: 5.927e1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: 4.09e-1

VQSLOD
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SIO_000300: 2.54e-1

FS
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SIO_000300: 2.563e0

DP
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SIO_000300: 2.617148e6

QD
type: SiteQuality
SIO_000300: 1.201e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.58e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
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DP
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -8.97e-1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

African
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allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 6.28698224852071e-3
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

QD
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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SIO_000300: 1.21e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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SIO_000300: 2.617864e6

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 5

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

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

African
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allele count: 2
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allele num: 10406
num of homozygotes: 0

European (Finnish)
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allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.546592990780504e-3
allele num: 66598
num of homozygotes: 0

Latino
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allele frequency: 7.77336327517706e-4
allele num: 11578
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 3.9e-1

QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
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SIO_000300: 5.94e1

VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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FS
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SIO_000300: 2.812e0

BaseQRankSum
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SIO_000300: -3.017e0

ReadPosRankSum
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SIO_000300: -5.95e-1

GenotypeDepth
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variant carriers: 2

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

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

European (Non-Finnish)
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allele num: 66584
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Latino
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num of homozygotes: 0

South Asian
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allele frequency: 1.852537977028529e-4
allele num: 16194
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 3
allele frequency: 4.552352048558422e-4
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.037777911670784e-5
allele num: 66388
num of homozygotes: 0

South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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Other
type: Population
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African
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allele frequency: 3.866228494104001e-4
allele num: 10346
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DP
type: SiteQuality
SIO_000300: 2.619876e6

ClippingRankSum
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FS
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 0
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Other
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African
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Latino
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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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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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European (Non-Finnish)
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Other
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South Asian
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

Latino
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East Asian
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African
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European (Non-Finnish)
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Other
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South Asian
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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European (Finnish)
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African
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ClippingRankSum
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FS
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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QD
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ClippingRankSum
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