A0A3B3IRL0 · A0A3B3IRL0_HUMAN
- ProteinSerum/glucocorticoid regulated kinase 2
- GeneSGK2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids158 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV58314204 rs778281277 | 3 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.343) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Population frequencies: - MAF: 0.000003981 (gnomAD) Accession: NC_000020.11:g.43566503C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43566503C>G Locations: - p.S3C (NCI-TCGA:ENST00000485914) - p.Ser3Cys (Ensembl:ENST00000485914) - c.8C>G (Ensembl:ENST00000485914) Source type: large scale study | |||||||
COSV58315541 rs1476667216 | 3 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated - low confidence (0.12) Somatic: Yes Population frequencies: - MAF: 0.000003981 (gnomAD) Accession: NC_000020.11:g.43566502T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43566502T>C Locations: - p.S3P (NCI-TCGA:ENST00000485914) - p.Ser3Pro (Ensembl:ENST00000485914) - c.7T>C (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs771880699 | 6 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000020.11:g.43566512C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43566512C>G Locations: - p.Ala6Gly (Ensembl:ENST00000485914) - c.17C>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1413171044 | 6 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.78) Somatic: No Accession: NC_000020.11:g.43566511G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43566511G>T Locations: - p.Ala6Ser (Ensembl:ENST00000485914) - c.16G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979729751 | 7 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000020.11:g.43566515G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43566515G>T Locations: - p.Gly7Val (Ensembl:ENST00000485914) - c.20G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs2145533695 | 8 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.83) Somatic: No Accession: NC_000020.11:g.43566518C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43566518C>G Locations: - p.Thr8Ser (Ensembl:ENST00000485914) - c.23C>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs376003983 | 10 | S>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000020.11:g.43566523A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43566523A>T Locations: - p.Ser10Cys (Ensembl:ENST00000485914) - c.28A>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1433631652 | 12 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.43566529C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43566529C>T Locations: - p.Gln12Ter (Ensembl:ENST00000485914) - c.34C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs151094343 COSV107441383 | 12 | Q>H | ESP ExAC TOPMed gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.438) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000020.11:g.43566531G>C, NC_000020.11:g.43566531G>T Codon: CAG/CAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43566531G>C, NC_000020.11:g.43566531G>T Locations: - p.Gln12His (Ensembl:ENST00000485914) - c.36G>C (Ensembl:ENST00000485914) - c.36G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979777141 | 13 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000020.11:g.43567069C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567069C>T Locations: - p.Pro13Leu (Ensembl:ENST00000485914) - c.38C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979776809 | 13 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000020.11:g.43567068C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567068C>T Locations: - p.Pro13Ser (Ensembl:ENST00000485914) - c.37C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979777869 | 15 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000020.11:g.43567074A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567074A>G Locations: - p.Arg15Gly (Ensembl:ENST00000485914) - c.43A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1051809537 | 17 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.78) Somatic: No Accession: NC_000020.11:g.43567081A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567081A>G Locations: - p.Asn17Ser (Ensembl:ENST00000485914) - c.50A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979778472 | 18 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000020.11:g.43567083G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567083G>A Locations: - p.Gly18Arg (Ensembl:ENST00000485914) - c.52G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1050011775 | 21 | N>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.305) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567093A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567093A>T Locations: - p.Asn21Ile (Ensembl:ENST00000485914) - c.62A>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1050011775 | 21 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.43567093A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567093A>G Locations: - p.Asn21Ser (Ensembl:ENST00000485914) - c.62A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1472496923 | 23 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.647) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567099G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567099G>A Locations: - p.Gly23Glu (Ensembl:ENST00000485914) - c.68G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs200005007 | 24 | P>S | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567101C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567101C>T Locations: - p.Pro24Ser (Ensembl:ENST00000485914) - c.70C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs200005007 | 24 | P>T | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567101C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567101C>A Locations: - p.Pro24Thr (Ensembl:ENST00000485914) - c.70C>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58313443 rs1436070727 rs1436070727,COSV58313443 | 25 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.157) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43567105C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567105C>T Locations: - p.S25L (NCI-TCGA:ENST00000485914) - p.Ser25Leu (Ensembl:ENST00000485914) - c.74C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs141029147 | 28 | P>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567114C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567114C>T Locations: - p.Pro28Leu (Ensembl:ENST00000485914) - c.83C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1388022431 | 29 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.43567116A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567116A>G Locations: - p.Asn29Asp (Ensembl:ENST00000485914) - c.85A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979818980 | 29 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.43567665T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567665T>A Locations: - p.Asn29Lys (Ensembl:ENST00000485914) - c.87T>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1264207084 | 30 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567667C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567667C>T Locations: - p.Ala30Val (Ensembl:ENST00000485914) - c.89C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58314787 rs769566731 | 31 | Q>* | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.43567669C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567669C>T Locations: - p.Gln31Ter (Ensembl:ENST00000485914) - c.91C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs2145536192 | 31 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000020.11:g.43567670A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567670A>G Locations: - p.Gln31Arg (Ensembl:ENST00000485914) - c.92A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV107441381 rs140303557 | 33 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.853) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000020.11:g.43567676C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567676C>T Locations: - p.T33M (NCI-TCGA:ENST00000485914) - p.Thr33Met (Ensembl:ENST00000485914) - c.98C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs771210039 | 34 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567678G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567678G>A Locations: - p.Asp34Asn (Ensembl:ENST00000485914) - c.100G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs774384018 | 35 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567682T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567682T>G Locations: - p.Phe35Cys (Ensembl:ENST00000485914) - c.104T>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs761088243 | 36 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.43567686C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567686C>G Locations: - p.Asp36Glu (Ensembl:ENST00000485914) - c.108C>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs368110081 | 36 | D>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.771) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567685A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567685A>G Locations: - p.Asp36Gly (Ensembl:ENST00000485914) - c.107A>G (Ensembl:ENST00000485914) Source type: large scale study | |||||||
COSV100414515 rs200530019 | 36 | D>N | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated - low confidence (0.08) Somatic: Yes Accession: NC_000020.11:g.43567684G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567684G>A Locations: - p.Asp36Asn (Ensembl:ENST00000485914) - c.106G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs368110081 | 36 | D>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567685A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567685A>T Locations: - p.Asp36Val (Ensembl:ENST00000485914) - c.107A>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
COSV58314314 rs200530019 | 36 | D>Y | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43567684G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567684G>T Locations: - p.Asp36Tyr (Ensembl:ENST00000485914) - c.106G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV106489132 rs2145536241 | 38 | L>F | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43567690C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567690C>T Locations: - p.Leu38Phe (Ensembl:ENST00000485914) - c.112C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979822284 | 40 | V>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567696G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567696G>T Locations: - p.Val40Phe (Ensembl:ENST00000485914) - c.118G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs369824445 | 41 | I>N | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567700T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567700T>A Locations: - p.Ile41Asn (Ensembl:ENST00000485914) - c.122T>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs987632510 | 42 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567702G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567702G>C Locations: - p.Gly42Arg (Ensembl:ENST00000485914) - c.124G>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs987632510 | 42 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567702G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567702G>A Locations: - p.Gly42Ser (Ensembl:ENST00000485914) - c.124G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs754209529 | 43 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0000517 (gnomAD) Accession: NC_000020.11:g.43567706A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567706A>G Locations: - p.K43R (NCI-TCGA:ENST00000485914) - p.Lys43Arg (Ensembl:ENST00000485914) - c.128A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs762686366 | 45 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567713C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567713C>A Locations: - p.Asn45Lys (Ensembl:ENST00000485914) - c.135C>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1172172653 | 45 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000020.11:g.43567712A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567712A>G Locations: - p.Asn45Ser (Ensembl:ENST00000485914) - c.134A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979824985 | 47 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567718G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567718G>A Locations: - p.Gly47Glu (Ensembl:ENST00000485914) - c.140G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs535471043 | 47 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567717G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567717G>A Locations: - p.Gly47Arg (Ensembl:ENST00000485914) - c.139G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs372782530 | 49 | V>I | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567916G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567916G>A Locations: - p.Val49Ile (Ensembl:ENST00000485914) - c.145G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1339072022 | 51 | L>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567923T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567923T>A Locations: - p.Leu51Gln (Ensembl:ENST00000485914) - c.152T>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58313899 rs752217367 | 53 | K>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43567929A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567929A>C Locations: - p.Lys53Thr (Ensembl:ENST00000485914) - c.158A>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs756048017 | 54 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567931C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567931C>T Locations: - p.Arg54Cys (Ensembl:ENST00000485914) - c.160C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
COSV58313398 rs147953497 | 54 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.48) Somatic: Yes Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000020.11:g.43567932G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567932G>A Locations: - p.R54H (NCI-TCGA:ENST00000485914) - p.Arg54His (Ensembl:ENST00000485914) - c.161G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs147953497 | 54 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000020.11:g.43567932G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567932G>T Locations: - p.Arg54Leu (Ensembl:ENST00000485914) - c.161G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1600988958 | 56 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000020.11:g.43567937T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567937T>C Locations: - p.Ser56Pro (Ensembl:ENST00000485914) - c.166T>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs753794614 | 57 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567941A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567941A>G Locations: - p.Asp57Gly (Ensembl:ENST00000485914) - c.170A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979839633 | 57 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567940G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567940G>A Locations: - p.Asp57Asn (Ensembl:ENST00000485914) - c.169G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs753794614 | 57 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.724) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567941A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567941A>T Locations: - p.Asp57Val (Ensembl:ENST00000485914) - c.170A>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58313159 rs1200346658 | 59 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000020.11:g.43567947C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567947C>T Locations: - p.A59V (NCI-TCGA:ENST00000485914) - p.Ala59Val (Ensembl:ENST00000485914) - c.176C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs147035926 | 61 | Y>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567953A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567953A>G Locations: - p.Tyr61Cys (Ensembl:ENST00000485914) - c.182A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979840863 | 61 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567952T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567952T>C Locations: - p.Tyr61His (Ensembl:ENST00000485914) - c.181T>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs147035926 | 61 | Y>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567953A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567953A>C Locations: - p.Tyr61Ser (Ensembl:ENST00000485914) - c.182A>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979841404 | 62 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567956C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567956C>T Locations: - p.Ala62Val (Ensembl:ENST00000485914) - c.185C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1267576874 | 63 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567959T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567959T>C Locations: - p.Val63Ala (Ensembl:ENST00000485914) - c.188T>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV107441385 rs746029910 | 63 | V>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.7) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43567958G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567958G>A Locations: - p.Val63Met (Ensembl:ENST00000485914) - c.187G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1345925418 | 64 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567963G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567963G>C Locations: - p.Lys64Asn (Ensembl:ENST00000485914) - c.192G>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1979842824 | 65 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567965T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567965T>C Locations: - p.V65A (NCI-TCGA:ENST00000485914) - p.Val65Ala (Ensembl:ENST00000485914) - c.194T>C (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs758675026 | 65 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000020.11:g.43567964G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567964G>T Locations: - p.Val65Leu (Ensembl:ENST00000485914) - c.193G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1218019427 | 68 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567973A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567973A>G Locations: - p.Lys68Glu (Ensembl:ENST00000485914) - c.202A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1367790703 | 68 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567974A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567974A>G Locations: - p.Lys68Arg (Ensembl:ENST00000485914) - c.203A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979843813 | 69 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.359) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567978G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567978G>C Locations: - p.Lys69Asn (Ensembl:ENST00000485914) - c.207G>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs267605942 | 70 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.459) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.43567980C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567980C>T Locations: - p.Ser70Phe (Ensembl:ENST00000485914) - c.209C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979844013 | 70 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.43567979T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567979T>C Locations: - p.Ser70Pro (Ensembl:ENST00000485914) - c.208T>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs780174060 | 71 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000020.11:g.43567982A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567982A>G Locations: - p.Ile71Val (Ensembl:ENST00000485914) - c.211A>G (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs8183328 | 76 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567998A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567998A>G Locations: - p.Glu76Gly (Ensembl:ENST00000485914) - c.227A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs8183328 | 76 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43567998A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43567998A>T Locations: - p.Glu76Val (Ensembl:ENST00000485914) - c.227A>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs781438134 | 78 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.326) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569389G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569389G>T Locations: - p.Ser78Ile (Ensembl:ENST00000485914) - c.233G>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs781438134 | 78 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000020.11:g.43569389G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569389G>A Locations: - p.Ser78Asn (Ensembl:ENST00000485914) - c.233G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1206827133 | 79 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569393C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569393C>A Locations: - p.His79Gln (Ensembl:ENST00000485914) - c.237C>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979956824 | 80 | I>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569394A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569394A>T Locations: - p.Ile80Phe (Ensembl:ENST00000485914) - c.238A>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs770491904 | 81 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569397A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569397A>T Locations: - p.Met81Leu (Ensembl:ENST00000485914) - c.241A>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs770491904 | 81 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569397A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569397A>G Locations: - p.Met81Val (Ensembl:ENST00000485914) - c.241A>G (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs749720747 | 82 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569400G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569400G>C Locations: - p.Ala82Pro (Ensembl:ENST00000485914) - c.244G>C (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs749720747 | 82 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.319) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000020.11:g.43569400G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569400G>T Locations: - p.Ala82Ser (Ensembl:ENST00000485914) - c.244G>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
COSV100414595 COSV100414657 rs763850331 | 84 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007965 (gnomAD) Accession: NC_000020.11:g.43569406C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569406C>T Locations: - p.R84C (NCI-TCGA:ENST00000485914) - p.Arg84Cys (Ensembl:ENST00000485914) - c.250C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
COSV107441387 rs569319046 | 84 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43569407G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569407G>A Locations: - p.Arg84His (Ensembl:ENST00000485914) - c.251G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV100414595 COSV100414657 rs763850331 | 84 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007965 (gnomAD) Accession: NC_000020.11:g.43569406C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569406C>A Locations: - p.R84S (NCI-TCGA:ENST00000485914) - p.Arg84Ser (Ensembl:ENST00000485914) - c.250C>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1407966655 | 87 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569416T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569416T>C Locations: - p.Leu87Pro (Ensembl:ENST00000485914) - c.260T>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs761726709 | 91 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.43569427G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569427G>A Locations: - p.Val91Met (Ensembl:ENST00000485914) - c.271G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs762618711 | 92 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.13) Somatic: No Population frequencies: - MAF: 0.00001194 (gnomAD) Accession: NC_000020.11:g.43569431G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569431G>A Locations: - p.R92Q (NCI-TCGA:ENST00000485914) - p.Arg92Gln (Ensembl:ENST00000485914) - c.275G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58312566 rs750192641 | 92 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.562) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002389 (gnomAD) Accession: NC_000020.11:g.43569430C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569430C>T Locations: - p.R92W (NCI-TCGA:ENST00000485914) - p.Arg92Trp (Ensembl:ENST00000485914) - c.274C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979960027 | 94 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569437C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569437C>T Locations: - p.Pro94Leu (Ensembl:ENST00000485914) - c.281C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58313311 rs1415736322 | 96 | L>F | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43569442C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569442C>T Locations: - p.Leu96Phe (Ensembl:ENST00000485914) - c.286C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs149168513 | 97 | V>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569445G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569445G>C Locations: - p.Val97Leu (Ensembl:ENST00000485914) - c.289G>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs149168513 | 97 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00005574 (gnomAD) Accession: NC_000020.11:g.43569445G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569445G>A Locations: - p.V97M (NCI-TCGA:ENST00000485914) - p.Val97Met (Ensembl:ENST00000485914) - c.289G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
COSV58314483 rs1304306746 | 100 | R>C | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43569454C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569454C>T Locations: - p.Arg100Cys (Ensembl:ENST00000485914) - c.298C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58314126 rs367993196 | 100 | R>H | cosmic curated 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000020.11:g.43569455G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569455G>A Locations: - p.Arg100His (Ensembl:ENST00000485914) - c.299G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1363763474 | 101 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569458A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569458A>G Locations: - p.Tyr101Cys (Ensembl:ENST00000485914) - c.302A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs778374321 | 104 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.43569466C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569466C>T Locations: - p.Gln104Ter (Ensembl:ENST00000485914) - c.310C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1323071785 | 104 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.623) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569468G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569468G>T Locations: - p.Gln104His (Ensembl:ENST00000485914) - c.312G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979962374 | 105 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.819) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569469A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569469A>G Locations: - p.Thr105Ala (Ensembl:ENST00000485914) - c.313A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979962374 | 105 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.43569469A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569469A>T Locations: - p.Thr105Ser (Ensembl:ENST00000485914) - c.313A>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs771132667 | 106 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.81) Somatic: No Accession: NC_000020.11:g.43569472C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569472C>G Locations: - p.Pro106Ala (Ensembl:ENST00000485914) - c.316C>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV107441384 rs377612011 | 106 | P>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000020.11:g.43569473C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569473C>A Locations: - p.Pro106His (Ensembl:ENST00000485914) - c.317C>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs377612011 | 106 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000020.11:g.43569473C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569473C>T Locations: - p.Pro106Leu (Ensembl:ENST00000485914) - c.317C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs377612011 | 106 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000020.11:g.43569473C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569473C>G Locations: - p.Pro106Arg (Ensembl:ENST00000485914) - c.317C>G (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1240899725 | 107 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569476A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569476A>C Locations: - p.Glu107Ala (Ensembl:ENST00000485914) - c.320A>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs746625692 | 107 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569475G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569475G>A Locations: - p.Glu107Lys (Ensembl:ENST00000485914) - c.319G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1466884509 | 108 | K>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.43569478A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569478A>T Locations: - p.Lys108Ter (Ensembl:ENST00000485914) - c.322A>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs938843585 | 108 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569480G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569480G>T Locations: - p.Lys108Asn (Ensembl:ENST00000485914) - c.324G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1979964520 | 109 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569481C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569481C>T Locations: - p.Leu109Phe (Ensembl:ENST00000485914) - c.325C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1187488873 | 110 | Y>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569484T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569484T>G Locations: - p.Tyr110Asp (Ensembl:ENST00000485914) - c.328T>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58313765 rs776084733 | 112 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001993 (gnomAD) Accession: NC_000020.11:g.43569490G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569490G>A Locations: - p.V112M (NCI-TCGA:ENST00000485914) - p.Val112Met (Ensembl:ENST00000485914) - c.334G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1399643390 | 114 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569497A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569497A>G Locations: - p.Asp114Gly (Ensembl:ENST00000485914) - c.341A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58315103 rs369045712 | 114 | D>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43569496G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569496G>A Locations: - p.Asp114Asn (Ensembl:ENST00000485914) - c.340G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs369045712 | 114 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569496G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569496G>T Locations: - p.Asp114Tyr (Ensembl:ENST00000485914) - c.340G>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
COSV106489131 rs894730265 | 115 | Y>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43569500A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569500A>G Locations: - p.Tyr115Cys (Ensembl:ENST00000485914) - c.344A>G (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs894730265 | 115 | Y>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569500A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569500A>C Locations: - p.Tyr115Ser (Ensembl:ENST00000485914) - c.344A>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1568664724 | 116 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000020.11:g.43569502G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569502G>A Locations: - p.Val116Ile (Ensembl:ENST00000485914) - c.346G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs773071898 | 117 | N>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569505A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569505A>G Locations: - p.Asn117Asp (Ensembl:ENST00000485914) - c.349A>G (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs143273559 | 117 | N>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569507C>G, NC_000020.11:g.43569507C>A Codon: AAC/AAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569507C>G, NC_000020.11:g.43569507C>A Locations: - p.Asn117Lys (Ensembl:ENST00000485914) - c.351C>G (Ensembl:ENST00000485914) - c.351C>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
COSV100414519 rs372059009 | 118 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00004396 (gnomAD) Accession: NC_000020.11:g.43569508G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569508G>A Locations: - p.G118R (NCI-TCGA:ENST00000485914) - p.Gly118Arg (Ensembl:ENST00000485914) - c.352G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs767901983 | 118 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569509G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569509G>T Locations: - p.Gly118Val (Ensembl:ENST00000485914) - c.353G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs372059009 | 118 | G>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569508G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569508G>T Locations: - p.Gly118Trp (Ensembl:ENST00000485914) - c.352G>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs752991711 | 119 | G>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.43569511G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569511G>T Locations: - p.Gly119Ter (Ensembl:ENST00000485914) - c.355G>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs756221883 | 119 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569512G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569512G>T Locations: - p.Gly119Val (Ensembl:ENST00000485914) - c.356G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs778005111 | 120 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43569514G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43569514G>A Locations: - p.Glu120Lys (Ensembl:ENST00000485914) - c.358G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1395594924 | 121 | L>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570618T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570618T>A Locations: - p.Leu121His (Ensembl:ENST00000485914) - c.362T>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1600991607 | 124 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570627A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570627A>C Locations: - p.His124Pro (Ensembl:ENST00000485914) - c.371A>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1327166599 | 125 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570630T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570630T>C Locations: - p.Leu125Pro (Ensembl:ENST00000485914) - c.374T>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58314420 RCV001543614 rs35187177 | 127 | R>Q | Colorectal cancer (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000020.11:g.43570636G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570636G>A Locations: - p.Arg127Gln (Ensembl:ENST00000485914) - c.380G>A (Ensembl:ENST00000485914) Disease association: - Colorectal cancer Source type: large scale study Cross-references: | |||||||
rs777117678 | 127 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570635C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570635C>T Locations: - p.Arg127Trp (Ensembl:ENST00000485914) - c.379C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1980038865 | 128 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570639A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570639A>G Locations: - p.Glu128Gly (Ensembl:ENST00000485914) - c.383A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1357905242 | 128 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570638G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570638G>A Locations: - p.Glu128Lys (Ensembl:ENST00000485914) - c.382G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58312148 rs915237238 | 129 | R>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43570641C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570641C>T Locations: - p.Arg129Cys (Ensembl:ENST00000485914) - c.385C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs915237238 | 129 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570641C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570641C>G Locations: - p.Arg129Gly (Ensembl:ENST00000485914) - c.385C>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58313047 rs559824768 | 129 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Population frequencies: - MAF: 0.00002004 (gnomAD) Accession: NC_000020.11:g.43570642G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570642G>A Locations: - p.R129H (NCI-TCGA:ENST00000485914) - p.Arg129His (Ensembl:ENST00000485914) - c.386G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs570263979 | 130 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000020.11:g.43570645G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570645G>A Locations: - p.Arg130Gln (Ensembl:ENST00000485914) - c.389G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs148253360 | 130 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570644C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570644C>T Locations: - p.Arg130Trp (Ensembl:ENST00000485914) - c.388C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs775481466 | 134 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.663) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000020.11:g.43570656C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570656C>G Locations: - p.Pro134Ala (Ensembl:ENST00000485914) - c.400C>G (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs760973578 | 134 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570657C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570657C>G Locations: - p.Pro134Arg (Ensembl:ENST00000485914) - c.401C>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs775481466 | 134 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570656C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570656C>A Locations: - p.Pro134Thr (Ensembl:ENST00000485914) - c.400C>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs141249005 | 135 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570659C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570659C>G Locations: - p.Arg135Gly (Ensembl:ENST00000485914) - c.403C>G (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs199504693 | 135 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570660G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570660G>A Locations: - p.Arg135Gln (Ensembl:ENST00000485914) - c.404G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs141249005 | 135 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570659C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570659C>T Locations: - p.Arg135Trp (Ensembl:ENST00000485914) - c.403C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs56229314 | 137 | R>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570667G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570667G>T Locations: - p.Arg137Ser (Ensembl:ENST00000485914) - c.411G>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1600991701 | 137 | R>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570666G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570666G>C Locations: - p.Arg137Thr (Ensembl:ENST00000485914) - c.410G>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1980043440 | 139 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570672A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570672A>G Locations: - p.Tyr139Cys (Ensembl:ENST00000485914) - c.416A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV100414786 rs552024157 | 140 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000020.11:g.43570674G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570674G>A Locations: - p.A140T (NCI-TCGA:ENST00000485914) - p.Ala140Thr (Ensembl:ENST00000485914) - c.418G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1980043957 | 141 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570678C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570678C>T Locations: - p.Ala141Val (Ensembl:ENST00000485914) - c.422C>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV58313188 rs1460299750 | 142 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43570680G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570680G>A Locations: - p.E142K (NCI-TCGA:ENST00000485914) - p.Glu142Lys (Ensembl:ENST00000485914) - c.424G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1166299206 | 143 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000020.11:g.43570683G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570683G>A Locations: - p.Val143Met (Ensembl:ENST00000485914) - c.427G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs138125315 | 144 | A>G | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570687C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570687C>G Locations: - p.Ala144Gly (Ensembl:ENST00000485914) - c.431C>G (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs138125315 | 144 | A>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.43570687C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570687C>T Locations: - p.Ala144Val (Ensembl:ENST00000485914) - c.431C>T (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs755742423 | 145 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.43570689A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570689A>T Locations: - p.Ser145Cys (Ensembl:ENST00000485914) - c.433A>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs755742423 | 145 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570689A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570689A>C Locations: - p.Ser145Arg (Ensembl:ENST00000485914) - c.433A>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs756719391 | 146 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570693C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570693C>A Locations: - p.Ala146Asp (Ensembl:ENST00000485914) - c.437C>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs766451038 | 146 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570692G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570692G>A Locations: - p.Ala146Thr (Ensembl:ENST00000485914) - c.436G>A (Ensembl:ENST00000485914) Source type: large scale study | |||||||
rs1980047251 | 147 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.603) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570696T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570696T>C Locations: - p.Ile147Thr (Ensembl:ENST00000485914) - c.440T>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs745787170 | 149 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.43570703C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570703C>A Locations: - p.Tyr149Ter (Ensembl:ENST00000485914) - c.447C>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs778297714 | 149 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570702A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570702A>G Locations: - p.Tyr149Cys (Ensembl:ENST00000485914) - c.446A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1600991758 | 150 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570705T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570705T>C Locations: - p.Leu150Pro (Ensembl:ENST00000485914) - c.449T>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1225705735 | 150 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570704C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570704C>G Locations: - p.Leu150Val (Ensembl:ENST00000485914) - c.448C>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1252643805 | 151 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570708A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570708A>G Locations: - p.His151Arg (Ensembl:ENST00000485914) - c.452A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs886678200 | 155 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.804) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570719A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570719A>T Locations: - p.Ile155Phe (Ensembl:ENST00000485914) - c.463A>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs779959970 | 155 | I>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570720T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570720T>A Locations: - p.Ile155Asn (Ensembl:ENST00000485914) - c.464T>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs779959970 | 155 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570720T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570720T>C Locations: - p.Ile155Thr (Ensembl:ENST00000485914) - c.464T>C (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs886678200 | 155 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000020.11:g.43570719A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570719A>G Locations: - p.Ile155Val (Ensembl:ENST00000485914) - c.463A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1980050646 | 158 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.43570728A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570728A>G Locations: - p.Arg158Gly (Ensembl:ENST00000485914) - c.472A>G (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
COSV104658103 rs371001587 | 158 | R>K | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.43570729G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570729G>A Locations: - p.Arg158Lys (Ensembl:ENST00000485914) - c.473G>A (Ensembl:ENST00000485914) Source type: large scale study Cross-references: | |||||||
rs1980051404 | 159 | *>C | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000020.11:g.43570733A>T Codon: TGA/TGT Consequence type: stop lost Cytogenetic band: 20q13.12 Genomic location: NC_000020.11:g.43570733A>T Locations: - p.Ter159CysextTer26 (Ensembl:ENST00000485914) - c.477A>T (Ensembl:ENST00000485914) Source type: large scale study Cross-references: |