17-5329362-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329362
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329362
    reference: chr 17
allele count: 1
allele frequency: 8.537230863797019e-6
allele num: 117134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.385G>T
  hgvsp: ENSP00000370606.3:p.Glu129Ter
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.955G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-194G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.385G>T
  hgvsp: ENSP00000315069.6:p.Glu129Ter
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.385G>T
  hgvsp: ENSP00000370605.5:p.Glu129Ter
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-2029G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.385G>T
  hgvsp: ENSP00000446453.2:p.Glu129Ter
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.955G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-549C>A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.385G>T
  hgvsp: ENSP00000385814.4:p.Glu129Ter
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.411G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-194G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.396G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-194G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3213G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-2029G>T
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu129Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP

17-5329364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329364
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329364
    reference: chr 17
allele count: 1
allele frequency: 8.534753516318448e-6
allele num: 117168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-2027G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.387G>A
  hgvsp: ENST00000539417.2:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.387G>A
  hgvsp: ENST00000381209.3:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-192G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3215G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.387G>A
  hgvsp: ENST00000405578.4:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.387G>A
  hgvsp: ENST00000381208.5:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.413G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.957G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.387G>A
  hgvsp: ENST00000327154.6:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.957G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-2027G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-192G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.398G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-551C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-192G>A
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu129Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

17-5329379-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329379
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329379
    reference: chr 17
allele count: 1
allele frequency: 8.537668192063383e-6
allele num: 117128
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-566T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.402A>G
  hgvsp: ENST00000381209.3:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-177A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.972A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.402A>G
  hgvsp: ENST00000381208.5:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-2012A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.413A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-177A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.402A>G
  hgvsp: ENST00000327154.6:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-177A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-2012A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.972A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3230A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.402A>G
  hgvsp: ENST00000405578.4:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.428A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.402A>G
  hgvsp: ENST00000539417.2:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro134Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

17-5329383-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329383
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329383
    reference: chr 17
allele count: 3
allele frequency: 2.561781633733541e-5
allele num: 117106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.406A>G
  hgvsp: ENSP00000370605.5:p.Ile136Val
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.976A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.406A>G
  hgvsp: ENSP00000315069.6:p.Ile136Val
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.976A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-173A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-173A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.417A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.406A>G
  hgvsp: ENSP00000385814.4:p.Ile136Val
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.432A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.406A>G
  hgvsp: ENSP00000370606.3:p.Ile136Val
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-173A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.406A>G
  hgvsp: ENSP00000446453.2:p.Ile136Val
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-2008A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3234A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-570T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-2008A>G
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile136Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-5329392-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329392
    reference: chr 17
allele count: 1
allele frequency: 8.558419773373044e-6
allele num: 116844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.415G>C
  hgvsp: ENSP00000370606.3:p.Val139Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.985G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.415G>C
  hgvsp: ENSP00000315069.6:p.Val139Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-164G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.415G>C
  hgvsp: ENSP00000370605.5:p.Val139Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-164G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1999G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.415G>C
  hgvsp: ENSP00000385814.4:p.Val139Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.441G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.415G>C
  hgvsp: ENSP00000446453.2:p.Val139Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.985G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.426G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3243G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-164G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-579C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1999G>C
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val139Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

17-5329392-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329392
    reference: chr 17
allele count: 185
allele frequency: 1.583307658074013e-3
allele num: 116844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.985G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.985G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.415G>T
  hgvsp: ENSP00000446453.2:p.Val139Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.426G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-164G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.415G>T
  hgvsp: ENSP00000370606.3:p.Val139Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-164G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-164G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1999G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.415G>T
  hgvsp: ENSP00000370605.5:p.Val139Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1999G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.415G>T
  hgvsp: ENSP00000385814.4:p.Val139Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.441G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3243G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-579C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.415G>T
  hgvsp: ENSP00000315069.6:p.Val139Leu
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28334
  bin: 2.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val139Leu
num of homozygotes: 2
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-5329399-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329399
    reference: chr 17
allele count: 18
allele frequency: 1.54434854230657e-4
allele num: 116554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-157C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.422C>A
  hgvsp: ENSP00000370606.3:p.Thr141Lys
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.422C>A
  hgvsp: ENSP00000315069.6:p.Thr141Lys
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-157C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.992C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-157C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.422C>A
  hgvsp: ENSP00000385814.4:p.Thr141Lys
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1992C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.992C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.448C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.422C>A
  hgvsp: ENSP00000446453.2:p.Thr141Lys
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.422C>A
  hgvsp: ENSP00000370605.5:p.Thr141Lys
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3250C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.433C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1992C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-586G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr141Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-5329402-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329402
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329402
    reference: chr 17
allele count: 1
allele frequency: 8.574123295892996e-6
allele num: 116630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1989A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.425A>G
  hgvsp: ENSP00000370605.5:p.Lys142Arg
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425A>G
  hgvsp: ENSP00000446453.2:p.Asn142Ser
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.425A>G
  hgvsp: ENSP00000370606.3:p.Lys142Arg
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1989A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425A>G
  hgvsp: ENSP00000315069.6:p.Lys142Arg
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.425A>G
  hgvsp: ENSP00000385814.4:p.Lys142Arg
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.436A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.451A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.995A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3253A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-154A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-154A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-154A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.995A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-589T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys142Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

17-5329414-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329414
    reference: chr 17
allele count: 3
allele frequency: 2.580290024598765e-5
allele num: 116266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+12T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-601A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3265T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1007T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.425+12T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1007T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-142T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1977T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-142T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.448T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.425+12T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-142T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+12T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.463T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.425+12T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1977T>A
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25170
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-5329435-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329435
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329435
    reference: chr 17
allele count: 11
allele frequency: 9.400263207369807e-5
allele num: 117018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1028C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1956C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.425+33C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.425+33C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.484C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.469C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-121C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1028C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.425+33C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+33C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1956C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-121C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-121C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3286C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-622G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+33C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27646
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

17-5329436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329436
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329436
    reference: chr 17
allele count: 1
allele frequency: 8.525439912699495e-6
allele num: 117296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-120G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.425+34G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.470G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1029G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+34G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.425+34G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-120G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+34G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-120G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.425+34G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-623C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1029G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1955G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1955G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.485G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3287G>A
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

17-5329436-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329436
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329436
    reference: chr 17
allele count: 1
allele frequency: 8.525439912699495e-6
allele num: 117296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+34G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-120G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1955G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1029G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-120G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1955G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1029G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.470G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-120G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.485G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.425+34G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.425+34G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-623C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+34G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3287G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.425+34G>T
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-5329439-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329439
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329439
    reference: chr 17
allele count: 24
allele frequency: 2.040504004489109e-4
allele num: 117618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+37C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.425+37C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1032C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.425+37C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-117C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1032C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.425+37C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+37C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-626G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1952C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.473C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1952C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-117C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-117C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3290C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.488C>G
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15076
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29655
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-5329449-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329449
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329449
    reference: chr 17
allele count: 1
allele frequency: 8.424883736604435e-6
allele num: 118696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-107A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1942A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.425+47A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1942A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.498A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+47A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+47A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1042A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1042A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.483A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.425+47A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.425+47A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-107A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-107A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3300A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-636T>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-5329513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329513
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329513
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.426-43G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-43G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.562G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.547G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-43G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1106G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1106G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1878G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.426-43G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-700C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-43G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3364G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.426-43G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+111G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+111G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1878G>A
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

17-5329522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329522
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329522
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.571C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1115C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.556C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1869C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1869C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+120C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.426-34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1115C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+120C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-709G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3373C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.426-34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.426-34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-34C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-5329523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329523
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329523
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-33C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.426-33C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.572C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1116C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.557C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1116C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-710G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.426-33C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1868C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-33C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.426-33C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-33C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1868C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+121C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3374C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+121C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-5329524-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329524
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329524
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-32A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.573A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.426-32A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3375A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1867A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.426-32A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1117A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.426-32A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1117A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-32A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.558A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-711T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-32A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+122A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1867A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+122A>C
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-5329528-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329528
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329528
    reference: chr 17
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-715A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-28T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.562T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.426-28T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.426-28T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1121T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1863T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+126T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1121T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-28T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-28T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.577T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3379T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1863T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.426-28T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+126T>A
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-5329540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329540
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329540
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1851C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-16C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3391C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1133C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.589C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-727G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.426-16C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+138C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-16C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1133C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.574C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+138C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-16C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.426-16C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1851C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.426-16C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-5329554-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329554
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329554
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1147A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-741T>C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.426-2A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1837A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.603A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+152A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1837A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1147A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.314-2A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.314-2A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.588A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.426-2A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.314-2A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3405A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.426-2A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+152A>G
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.426-2A>G
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-5329573-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329573
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329573
    reference: chr 17
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.443C>A
  hgvsp: ENSP00000370605.5:p.Thr148Lys
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+171C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3424C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1166C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1818C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*7C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.443C>A
  hgvsp: ENSP00000370606.3:p.Thr148Lys
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.443C>A
  hgvsp: ENSP00000385814.4:p.Thr148Lys
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.607C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*7C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*7C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.622C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1818C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-760G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1166C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+171C>A
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr148Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-5329575-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329575
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329575
    reference: chr 17
allele count: 601
allele frequency: 4.950087306032353e-3
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+173A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.624A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*9A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+173A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-762T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1816A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*9A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.445A>G
  hgvsp: ENSP00000370605.5:p.Ser149Gly
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3426A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.445A>G
  hgvsp: ENSP00000370606.3:p.Ser149Gly
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1168A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.609A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*9A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.445A>G
  hgvsp: ENSP00000385814.4:p.Ser149Gly
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1168A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1816A>G
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser149Gly
num of homozygotes: 17
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-5329577-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329577
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1814C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.447C>T
  hgvsp: ENST00000381208.5:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.611C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+175C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.447C>T
  hgvsp: ENST00000381209.3:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.626C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3428C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.447C>T
  hgvsp: ENST00000405578.4:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1170C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+175C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-764G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1170C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1814C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser149Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-5329577-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329576
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3430delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.449delG
  hgvsp: ENSP00000370606.3:p.Gly150ValfsTer18
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*13delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1172delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.449delG
  hgvsp: ENSP00000370605.5:p.Gly150ValfsTer21
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-765delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.613delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*13delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*13delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1812delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.449delG
  hgvsp: ENSP00000385814.4:p.Gly150ValfsTer18
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.628delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1812delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+177delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+177delG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1172delG
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly150ValfsTer18
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: CG
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

17-5329578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329578
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329578
    reference: chr 17
allele count: 9
allele frequency: 7.413020558777017e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.448G>A
  hgvsp: ENSP00000370606.3:p.Gly150Ser
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-765C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1171G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.448G>A
  hgvsp: ENSP00000370605.5:p.Gly150Ser
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1813G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1171G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+176G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.612G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1813G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.627G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.448G>A
  hgvsp: ENSP00000385814.4:p.Gly150Ser
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+176G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3429G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly150Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-5329589-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329589
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329589
    reference: chr 17
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.459G>T
  hgvsp: ENST00000405578.4:c.459G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3440G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1182G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1182G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*23G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-776C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+187G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*23G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.459G>T
  hgvsp: ENST00000381208.5:c.459G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.638G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1802G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.459G>T
  hgvsp: ENST00000381209.3:c.459G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+187G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1802G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.623G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*23G>T
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val153Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

17-5329595-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329595
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329595
    reference: chr 17
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1796G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*29G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*29G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-782C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+193G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.644G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.465G>C
  hgvsp: ENSP00000370606.3:p.Gln155His
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.465G>C
  hgvsp: ENSP00000385814.4:p.Gln155His
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.465G>C
  hgvsp: ENSP00000370605.5:p.Gln155His
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.629G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1188G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3446G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1188G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1796G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*29G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+193G>C
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln155His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

17-5329595-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329595
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329595
    reference: chr 17
allele count: 8
allele frequency: 6.589134517181169e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.465G>T
  hgvsp: ENSP00000370606.3:p.Gln155His
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1188G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*29G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3446G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1796G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*29G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*29G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.465G>T
  hgvsp: ENSP00000370605.5:p.Gln155His
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.465G>T
  hgvsp: ENSP00000385814.4:p.Gln155His
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.629G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1188G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1796G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+193G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.644G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+193G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-782C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln155His
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-5329600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329600
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329600
    reference: chr 17
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+198G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-787C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.634G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3451G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+198G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.470G>A
  hgvsp: ENSP00000385814.4:p.Gly157Asp
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.470G>A
  hgvsp: ENSP00000370606.3:p.Gly157Asp
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1791G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.470G>A
  hgvsp: ENSP00000370605.5:p.Gly157Asp
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.649G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1791G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1193G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1193G>A
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly157Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

17-5329608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329608
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329608
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.478A>G
  hgvsp: ENSP00000385814.4:p.Ile160Val
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.657A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1783A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.642A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1201A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+206A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.478A>G
  hgvsp: ENSP00000370606.3:p.Ile160Val
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3459A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.478A>G
  hgvsp: ENSP00000370605.5:p.Ile160Val
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1201A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-795T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1783A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+206A>G
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile160Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-5329621-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329621
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329622
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1212+3dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1769dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1769dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.489+3dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.489+3dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*53+3dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.656dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+3dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+3dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3473dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.668+3dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*53+3dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+3dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+220dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+220dupG
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-809dupC
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.489+3dupG
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-5329623-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329623
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329623
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1768A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+4A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*53+4A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+221A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.657A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.489+4A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*53+4A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1212+4A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.668+4A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+4A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.489+4A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-810T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+4A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+221A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1768A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3474A>G
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.489+4A>G
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-5329624-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329624
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329624
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1767G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1767G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+222G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+5G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.489+5G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.489+5G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.658G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*53+5G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*53+5G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+5G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+222G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3475G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1212+5G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.668+5G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-811C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+5G>C
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.489+5G>C
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-5329627-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329627
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329627
    reference: chr 17
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3478T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.668+8T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+8T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1212+8T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*53+8T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+225T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.661T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*53+8T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.489+8T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1764T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+8T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+225T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-814A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1764T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+8T>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.489+8T>A
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.489+8T>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-5329639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329639
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329639
    reference: chr 17
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+20A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.489+20A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+20A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-826T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.668+20A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1752A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+20A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+237A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.673A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*53+20A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+237A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1752A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3490A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.489+20A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1212+20A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*53+20A>G
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-5329643-C-CTTTTTGTGTTTGTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGTTTCGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329643
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329698
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: CTTTTTGTGTTTGTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGTTTCGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

17-5329653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329653
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329653
    reference: chr 17
allele count: 26
allele frequency: 2.141539272535582e-4
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1212+34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-840G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.489+34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3504C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1738C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1738C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.687C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.668+34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*53+34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+251C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*53+34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.489+34C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+251C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-5329657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329657
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329657
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+255C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1734C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1212+38C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+255C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*53+38C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.489+38C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.691C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.489+38C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+38C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*53+38C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1734C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3508C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+38C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.668+38C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-844G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+38C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-5329658-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329658
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329658
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1733C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.668+39C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+256C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3509C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+39C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1212+39C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*53+39C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.692C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.489+39C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.489+39C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+39C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-845G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+39C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*53+39C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1733C>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+256C>G
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-5329661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329661
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329661
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*53+42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.489+42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+259A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1730A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1730A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*53+42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+259A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-848T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.695A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3512A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.668+42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.489+42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1212+42A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+42A>G
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

17-5329664-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5329664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5329664
    reference: chr 17
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-1727G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.425+262G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1212+45G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.489+45G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+3515G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-851C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.668+45G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.698G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+45G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+262G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+45G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.489+45G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*53+45G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-1727G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*53+45G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+45G>C
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-5330579-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5330579
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5330579
    reference: chr 17
allele count: 1
allele frequency: 5.0e-1
allele num: 2
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.490-812T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.490-812T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+960T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.1613T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+960T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1213-812T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+1177T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.313+4430T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.426-812T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-1766A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-812T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+960T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*54-812T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.669-812T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*54-812T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-812T>C
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 2.5e0
  variant carriers: 269
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

17-5331348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331348
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331348
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1729C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1213-43C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+1946C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2382C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.669-43C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2535G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.490-43C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4514C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1729C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-43C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.426-43C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-43C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1729C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*54-43C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.490-43C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*54-43C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

17-5331368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331368
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331368
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1749G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1749G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.426-23G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.490-23G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*54-23G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.490-23G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2402G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.669-23G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1213-23G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4494G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*54-23G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2555C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1749G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-23G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+1966G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-23G>A
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-5331375-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331375
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331376
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1213-10dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.490-10dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4481dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.669-10dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.490-10dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-10dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1762dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*54-10dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2415dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1762dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.426-10dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*54-10dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2563dupA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+1979dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1762dupT
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-10dupT
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

17-5331386-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331386
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331386
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.669-5T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.314-5T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4476T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2420T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+1984T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1213-5T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.490-5T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2573A>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.490-5T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1767T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1767T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.314-5T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.426-5T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*54-5T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*54-5T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1767T>C
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.490-5T>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-5331396-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331396
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331396
    reference: chr 17
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1777T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.495T>C
  hgvsp: ENST00000405578.4:c.495T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.495T>C
  hgvsp: ENST00000381209.3:c.495T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2583A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1777T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1218T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.319T>C
  hgvsp: ENSP00000458218.1:p.Ter107ArgextTer13
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1777T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2430T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*59T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.431T>C
  hgvsp: ENSP00000446453.2:p.Leu144Pro
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.319T>C
  hgvsp: ENSP00000467178.1:p.Ter107ArgextTer13
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+1994T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*59T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.674T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4466T>C
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter107ArgextTer13
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

17-5331399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331399
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.677G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.434G>A
  hgvsp: ENSP00000446453.2:p.Ser145Asn
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1221G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.498G>A
  hgvsp: ENST00000405578.4:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1780G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1780G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2586C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2433G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.498G>A
  hgvsp: ENST00000381209.3:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+1997G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4463G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1780G>A
  variant of: http://identifiers.org/hgnc/28641
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser145Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

17-5331413-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331413
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331413
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.691A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2447A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2600T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.512A>G
  hgvsp: ENSP00000385814.4:p.Lys171Arg
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*10A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1794A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1235A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*76A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.512A>G
  hgvsp: ENSP00000370606.3:p.Lys171Arg
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1794A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*76A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4449A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1794A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2011A>G
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys171Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-5331414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331414
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.513G>A
  hgvsp: ENST00000405578.4:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1795G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1795G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.692G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2448G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*77G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*77G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1795G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.513G>A
  hgvsp: ENST00000381209.3:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4448G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*11G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1236G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2012G>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2601C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys171Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

17-5331430-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331430
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331430
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1252G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*32G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*93G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*27G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2464G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.529G>C
  hgvsp: ENSP00000370606.3:p.Glu177Gln
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.529G>C
  hgvsp: ENSP00000385814.4:p.Glu177Gln
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1811G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2028G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2617C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1811G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*93G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4432G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*32G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.708G>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1811G>C
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu177Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-5331436-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331436
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331436
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.535A>G
  hgvsp: ENSP00000370606.3:p.Ser179Gly
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1817A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4426A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.535A>G
  hgvsp: ENSP00000385814.4:p.Ser179Gly
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1817A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*99A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*38A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*38A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1258A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2470A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*99A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2034A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*33A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2623T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1817A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.714A>G
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser179Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-5331450-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331450
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331450
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.728C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.549C>A
  hgvsp: ENSP00000385814.4:p.His183Gln
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*113C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.549C>A
  hgvsp: ENSP00000370606.3:p.His183Gln
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*52C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1831C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*113C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*47C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1831C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2484C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2637G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1831C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4412C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1272C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*52C>A
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2048C>A
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His183Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-5331459-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331459
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331459
    reference: chr 17
allele count: 14
allele frequency: 1.153098540506704e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.558T>C
  hgvsp: ENST00000381209.3:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2493T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1281T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1840T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*61T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.558T>C
  hgvsp: ENST00000405578.4:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*122T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*122T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*61T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2646A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1840T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.737T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1840T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2057T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*56T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4403T>C
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His186His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

17-5331465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331465
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331465
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*128C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.564C>T
  hgvsp: ENST00000405578.4:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2652G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1846C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2063C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*62C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4397C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*128C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1287C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.564C>T
  hgvsp: ENST00000381209.3:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.743C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1846C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1846C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2499C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro188Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-5331465-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331465
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331463
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2654_1584-2653delTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2069_425+2070delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*73_*74delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*73_*74delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1293_1294delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1852_489+1853delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*134_*135delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*68_*69delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.570_571delAC
  hgvsp: ENSP00000385814.4:p.Pro191Ter
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1852_1212+1853delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.749_750delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1852_*53+1853delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2505_2506delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.570_571delAC
  hgvsp: ENSP00000370606.3:p.Pro191Ter
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4391_314-4390delAC
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*134_*135delAC
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro191Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: CCA
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-5331466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331466
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331466
    reference: chr 17
allele count: 23
allele frequency: 1.894407379952228e-4
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.565C>T
  hgvsp: ENSP00000370606.3:p.His189Tyr
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1847C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1847C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4396C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*68C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2653G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2064C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*68C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.565C>T
  hgvsp: ENSP00000385814.4:p.His189Tyr
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1288C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1847C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*63C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2500C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.744C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His189Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

17-5331467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331467
    reference: chr 17
allele count: 56
allele frequency: 4.612470142492381e-4
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2501A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.566A>G
  hgvsp: ENSP00000385814.4:p.His189Arg
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2654T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1848A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*130A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2065A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*130A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1848A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*69A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4395A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1289A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1848A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.566A>G
  hgvsp: ENSP00000370606.3:p.His189Arg
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*64A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.745A>G
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*69A>G
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.His189Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-5331469-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331469
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331469
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2503A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4393A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1850A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*66A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2067A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.747A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*71A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1291A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.568A>C
  hgvsp: ENSP00000385814.4:p.Thr190Pro
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*132A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*71A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.568A>C
  hgvsp: ENSP00000370606.3:p.Thr190Pro
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2656T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1850A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*132A>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1850A>C
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr190Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

17-5331479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331479
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331479
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1301T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1860T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*76T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1860T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1860T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*81T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2666A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.578T>C
  hgvsp: ENSP00000370606.3:p.Phe193Ser
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*142T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4383T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.757T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.578T>C
  hgvsp: ENSP00000385814.4:p.Phe193Ser
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2513T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2077T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*142T>C
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*81T>C
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe193Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-5331482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331482
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331482
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2080C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2669G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1304C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*79C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1863C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.581C>T
  hgvsp: ENSP00000385814.4:p.Ser194Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1863C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2516C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*145C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.581C>T
  hgvsp: ENSP00000370606.3:p.Ser194Leu
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*145C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*84C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*84C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.760C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4380C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1863C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser194Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-5331488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331488
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331488
    reference: chr 17
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2675G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.587C>T
  hgvsp: ENSP00000385814.4:p.Thr196Ile
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1869C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*85C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1310C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1869C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1869C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2522C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4374C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*151C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.587C>T
  hgvsp: ENSP00000370606.3:p.Thr196Ile
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.766C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*151C>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2086C>T
  variant of: http://identifiers.org/hgnc/28641
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr196Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

17-5331490-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5331490
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5331490
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000385814
  ensembl transcript: ENST00000405578
  gene symbol: RPAIN
  hgvsc: ENST00000405578.4:c.589G>T
  hgvsp: ENSP00000385814.4:p.Gly197Ter
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000315069
  ensembl transcript: ENST00000327154
  gene symbol: RPAIN
  hgvsc: ENST00000327154.6:c.425+2088G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460354
  ensembl transcript: ENST00000575112
  gene symbol: RPAIN
  hgvsc: ENST00000575112.1:c.*153G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000570883
  gene symbol: RPAIN
  hgvsc: ENST00000570883.1:n.768G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571613
  gene symbol: RPAIN
  hgvsc: ENST00000571613.1:n.1312G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000467178
  ensembl transcript: ENST00000574003
  gene symbol: RPAIN
  hgvsc: ENST00000574003.1:c.*92G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458218
  ensembl transcript: ENST00000575599
  gene symbol: RPAIN
  hgvsc: ENST00000575599.1:c.*92G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370606
  ensembl transcript: ENST00000381209
  gene symbol: RPAIN
  hgvsc: ENST00000381209.3:c.589G>T
  hgvsp: ENSP00000370606.3:p.Gly197Ter
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000460162
  ensembl transcript: ENST00000573577
  gene symbol: RPAIN
  hgvsc: ENST00000573577.1:c.*53+1871G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000573126
  gene symbol: RPAIN
  hgvsc: ENST00000573126.1:n.2524G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000446453
  ensembl transcript: ENST00000539417
  gene symbol: RPAIN
  hgvsc: ENST00000539417.2:c.*87G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000370605
  ensembl transcript: ENST00000381208
  gene symbol: RPAIN
  hgvsc: ENST00000381208.5:c.489+1871G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000458699
  ensembl transcript: ENST00000571558
  gene symbol: RPAIN
  hgvsc: ENST00000571558.1:c.*153G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl protein: ENSP00000439939
  ensembl transcript: ENST00000536255
  gene symbol: RPAIN
  hgvsc: ENST00000536255.2:c.314-4372G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129197
  ensembl transcript: ENST00000571043
  gene symbol: RPAIN
  hgvsc: ENST00000571043.1:n.1212+1871G>T
  variant of: http://identifiers.org/hgnc/28641
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263272
  ensembl transcript: ENST00000575890
  gene symbol: CTC-524C5.2
  hgvsc: ENST00000575890.1:n.1584-2677C>A
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly197Ter
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 598
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11581
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36403
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2440
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2107
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2742
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1026
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4836
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2864
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538698261270965e-5
allele num: 64990
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.006e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.195000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 1.721e0

DP
type: SiteQuality
SIO_000300: 1.439674e6

GenotypeDepth
all individuals: 2264
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2081
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 840
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 375
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4855
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2865
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
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European (Finnish)
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African
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South Asian
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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DP
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Latino
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East Asian
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African
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Other
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ClippingRankSum
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DP
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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FS
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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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South Asian
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Latino
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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DP
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BaseQRankSum
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VQSLOD
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QD
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.550820383983127e-5
allele num: 64482
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

Other
type: Population
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

ClippingRankSum
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QD
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MQRankSum
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SIO_000300: -9.57e-1

BaseQRankSum
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SIO_000300: 8.47e-1

InbreedingCoeff
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SIO_000300: -4.0e-4

ReadPosRankSum
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SIO_000300: 7.36e-1

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.366842e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -1.015e0

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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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: 3

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

African
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allele frequency: 0.0e0
allele num: 10008
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: 0
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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.673916430374225e-5
allele num: 64186
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 0.0e0

QD
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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SIO_000300: 8.36e-1

VQSLOD
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SIO_000300: 1.7e0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 1.06e-1

ReadPosRankSum
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SIO_000300: 4.91e-1

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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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: 11

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 10
allele frequency: 1.228803145736053e-3
allele num: 8138
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

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

African
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64472
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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QD
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SIO_000300: 1.314e1

BaseQRankSum
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SIO_000300: -1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
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SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.441342e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeDepth
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variant carriers: 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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16104
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547604308530395e-5
allele num: 64616
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
allele num: 11008
num of homozygotes: 0

VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8164
num of homozygotes: 0

Other
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: 64616
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.865824782951855e-5
allele num: 10136
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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FS
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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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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variant carriers: 24

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

European (Finnish)
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allele 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: 64752
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Latino
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allele frequency: 2.080318379160637e-3
allele num: 11056
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South Asian
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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DP
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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South Asian
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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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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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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MQRankSum
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FS
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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South Asian
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Latino
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQ
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European (Non-Finnish)
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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African
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European (Non-Finnish)
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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MQRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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FS
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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DP
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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South Asian
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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ClippingRankSum
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East Asian
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European (Non-Finnish)
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African
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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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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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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Other
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East Asian
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QD
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MQ
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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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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allele num: 66740
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South Asian
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African
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Latino
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Other
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European (Finnish)
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East Asian
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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Other
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FS
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Other
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South Asian
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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South Asian
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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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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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FS
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DP
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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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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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African
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East Asian
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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 66740
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South Asian
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VQSLOD
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MQ
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ClippingRankSum
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DP
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FS
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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num of homozygotes: 0

Other
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MQ
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FS
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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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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African
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num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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VQSLOD
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MQ
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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GenotypeDepth
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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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Latino
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African
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East Asian
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South Asian
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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FS
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DP
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MQ
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VQSLOD
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66738
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European (Finnish)
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East Asian
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Other
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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QD
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DP
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FS
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InbreedingCoeff
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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

Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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allele num: 8654
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European (Finnish)
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South Asian
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Other
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VQSLOD
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DP
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QD
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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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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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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Latino
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Other
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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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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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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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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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African
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 1.502195516524151e-3
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Latino
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Other
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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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 frequency: 0.0e0
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African
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European (Non-Finnish)
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Other
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East Asian
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Latino
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South Asian
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Other
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East Asian
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South Asian
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VQSLOD
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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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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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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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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Other
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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FS
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DP
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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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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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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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GenotypeQuality
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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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South Asian
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Other
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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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FS
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ClippingRankSum
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.77633e6

QD
type: SiteQuality
SIO_000300: 1.625e1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-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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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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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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South Asian
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VQSLOD
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SIO_000300: -7.919e-1

MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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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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GenotypeQuality
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Other
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European (Non-Finnish)
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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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South Asian
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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SIO_000300: 0.0e0

QD
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InbreedingCoeff
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SIO_000300: 5.0e-4

MQRankSum
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SIO_000300: -9.23e-1

DP
type: SiteQuality
SIO_000300: 1.775975e6

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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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: 4

Latino
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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QD
type: SiteQuality
SIO_000300: 1.466e1

FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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