E9PM67 · E9PM67_HUMAN
- ProteinInner centromere protein
- GeneINCENP
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids167 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs751178615 | 2 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128165G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128165G>A Locations: - p.Gly2Arg (Ensembl:ENST00000533896) - c.4G>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
VAR_047127 rs1792947 | 2 | G>V | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000011.10:g.62128166G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128166G>T Locations: - p.Gly2Val (UniProt:Q9NQS7) - p.Gly2Val (Ensembl:ENST00000533896) - c.5G>T (Ensembl:ENST00000533896) Source type: mixed Cross-references: | |||||||
COSV53922026 rs61744797 | 3 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.62128169C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128169C>T Locations: - p.T3M (NCI-TCGA:ENST00000533896) - p.Thr3Met (Ensembl:ENST00000533896) - c.8C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs61744797 | 3 | T>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128169C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128169C>G Locations: - p.Thr3Arg (Ensembl:ENST00000533896) - c.8C>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1197883172 | 4 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.62128171A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128171A>G Locations: - p.Thr4Ala (Ensembl:ENST00000533896) - c.10A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV53920305 rs779937744 | 4 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: Yes Population frequencies: - MAF: 0.00004377 (gnomAD) Accession: NC_000011.10:g.62128172C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128172C>T Locations: - p.T4M (NCI-TCGA:ENST00000533896) - p.Thr4Met (Ensembl:ENST00000533896) - c.11C>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs1221988722 | 5 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.62128174G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128174G>A Locations: - p.Ala5Thr (Ensembl:ENST00000533896) - c.13G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1476805654 | 6 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.62128178C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128178C>T Locations: - p.Pro6Leu (Ensembl:ENST00000533896) - c.17C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV105126848 rs927507409 | 6 | P>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000011.10:g.62128177C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128177C>T Locations: - p.Pro6Ser (Ensembl:ENST00000533896) - c.16C>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs778898075 | 7 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128181G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128181G>A Locations: - p.Gly7Glu (Ensembl:ENST00000533896) - c.20G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs2134609726 | 7 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128180G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128180G>A Locations: - p.Gly7Arg (Ensembl:ENST00000533896) - c.19G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1477222751 | 10 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.62128190A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128190A>G Locations: - p.His10Arg (Ensembl:ENST00000533896) - c.29A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs535503693 | 11 | L>M | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128192C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128192C>A Locations: - p.Leu11Met (Ensembl:ENST00000533896) - c.31C>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1457978482 | 13 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.62128198G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128198G>C Locations: - p.Glu13Gln (Ensembl:ENST00000533896) - c.37G>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs747297830 | 15 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128204T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128204T>C Locations: - p.Cys15Arg (Ensembl:ENST00000533896) - c.43T>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943798553 | 17 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.62128210C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128210C>T Locations: - p.Gln17Ter (Ensembl:ENST00000533896) - c.49C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943798553 | 17 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128210C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128210C>G Locations: - p.Gln17Glu (Ensembl:ENST00000533896) - c.49C>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1349675346 | 17 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000011.10:g.62128211A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128211A>G Locations: - p.Gln17Arg (Ensembl:ENST00000533896) - c.50A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943798740 | 18 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128213A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128213A>G Locations: - p.Lys18Glu (Ensembl:ENST00000533896) - c.52A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs771181833 | 19 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128216C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128216C>T Locations: - p.Leu19Phe (Ensembl:ENST00000533896) - c.55C>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs771181833 | 19 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128216C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128216C>G Locations: - p.Leu19Val (Ensembl:ENST00000533896) - c.55C>G (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs1943799015 | 20 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.62128221G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128221G>A Locations: - p.Met20Ile (Ensembl:ENST00000533896) - c.60G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs760112921 | 20 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000011.10:g.62128219A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128219A>G Locations: - p.Met20Val (Ensembl:ENST00000533896) - c.58A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943799161 | 22 | F>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128226T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128226T>A Locations: - p.Phe22Tyr (Ensembl:ENST00000533896) - c.65T>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943799236 | 24 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000011.10:g.62128231T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128231T>C Locations: - p.Cys24Arg (Ensembl:ENST00000533896) - c.70T>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs765839786 | 24 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000011.10:g.62128232G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128232G>C Locations: - p.Cys24Ser (Ensembl:ENST00000533896) - c.71G>C (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs1268531022 | 26 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128239G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128239G>A Locations: - p.Met26Ile (Ensembl:ENST00000533896) - c.78G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1186497806 | 26 | M>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128237A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128237A>T Locations: - p.Met26Leu (Ensembl:ENST00000533896) - c.76A>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs773937797 | 26 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128238T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128238T>C Locations: - p.Met26Thr (Ensembl:ENST00000533896) - c.77T>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs761426514 | 27 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128241A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128241A>G Locations: - p.Asp27Gly (Ensembl:ENST00000533896) - c.80A>G (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs761426514 | 27 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128241A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128241A>T Locations: - p.Asp27Val (Ensembl:ENST00000533896) - c.80A>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs917711276 | 29 | K>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.62128246A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128246A>G Locations: - p.Lys29Glu (Ensembl:ENST00000533896) - c.85A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1489807849 | 32 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.62128256T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128256T>C Locations: - p.Val32Ala (Ensembl:ENST00000533896) - c.95T>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs767156240 | 32 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.62128255G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128255G>T Locations: - p.Val32Leu (Ensembl:ENST00000533896) - c.94G>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs750010597 | 35 | E>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.62128264G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128264G>T Locations: - p.Glu35Ter (Ensembl:ENST00000533896) - c.103G>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1263428561 | 35 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128265A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128265A>T Locations: - p.Glu35Val (Ensembl:ENST00000533896) - c.104A>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1413043767 | 37 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128270A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128270A>G Locations: - p.Ile37Val (Ensembl:ENST00000533896) - c.109A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs766073816 | 38 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000011.10:g.62128275A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128275A>C Locations: - p.Gln38His (Ensembl:ENST00000533896) - c.114A>C (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs753636022 | 40 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128281G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128281G>T Locations: - p.Glu40Asp (Ensembl:ENST00000533896) - c.120G>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1474028208 | 40 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128280A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128280A>T Locations: - p.Glu40Val (Ensembl:ENST00000533896) - c.119A>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1260396107 | 41 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128282G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128282G>T Locations: - p.Ala41Ser (Ensembl:ENST00000533896) - c.121G>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs754852659 | 42 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000011.10:g.62128285G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128285G>A Locations: - p.Glu42Lys (Ensembl:ENST00000533896) - c.124G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1229175211 | 43 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128288C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128288C>T Locations: - p.Arg43Cys (Ensembl:ENST00000533896) - c.127C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV53912946 rs748187082 | 43 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00002786 (gnomAD) Accession: NC_000011.10:g.62128289G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128289G>A Locations: - p.R43H (NCI-TCGA:ENST00000533896) - p.Arg43His (Ensembl:ENST00000533896) - c.128G>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs777960716 | 44 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.62128293G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128293G>C Locations: - p.Met44Ile (Ensembl:ENST00000533896) - c.132G>C (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs747188764 | 45 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128294T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128294T>G Locations: - p.Phe45Val (Ensembl:ENST00000533896) - c.133T>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs2134610364 | 46 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.62128297A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128297A>G Locations: - p.Thr46Ala (Ensembl:ENST00000533896) - c.136A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs780612559 | 47 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.62128770A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128770A>T Locations: - p.Arg47Ser (Ensembl:ENST00000533896) - c.141A>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs867025091 | 49 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.62128776C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128776C>A Locations: - p.Phe49Leu (Ensembl:ENST00000533896) - c.147C>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943813907 | 52 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.62128783G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128783G>A Locations: - p.Glu52Lys (Ensembl:ENST00000533896) - c.154G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943813988 | 53 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.62128787C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128787C>T Locations: - p.Pro53Leu (Ensembl:ENST00000533896) - c.158C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1460360795 | 54 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.62128789G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128789G>C Locations: - p.Glu54Gln (Ensembl:ENST00000533896) - c.160G>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943814162 | 55 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128792C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128792C>A Locations: - p.Leu55Met (Ensembl:ENST00000533896) - c.163C>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943814248 | 56 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128797G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128797G>A Locations: - p.Met56Ile (Ensembl:ENST00000533896) - c.168G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs749798653 | 58 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128801A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128801A>G Locations: - p.Lys58Glu (Ensembl:ENST00000533896) - c.172A>G (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs769272291 | 58 | K>R | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.62128802A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128802A>G Locations: - p.Lys58Arg (Ensembl:ENST00000533896) - c.173A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV99074432 rs1943814490 | 59 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated gnomAD | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.62128805C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128805C>T Locations: - p.T59I (NCI-TCGA:ENST00000533896) - p.Thr59Ile (Ensembl:ENST00000533896) - c.176C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1418886521 | 62 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.62128813C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128813C>T Locations: - p.Gln62Ter (Ensembl:ENST00000533896) - c.184C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs772539906 | 65 | R>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128823G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128823G>A Locations: - p.Arg65Gln (Ensembl:ENST00000533896) - c.194G>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
COSV53920185 rs371824179 | 66 | R>Q | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.88) Somatic: Yes Accession: NC_000011.10:g.62128826G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128826G>A Locations: - p.Arg66Gln (Ensembl:ENST00000533896) - c.197G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV53918880 rs201257670 | 66 | R>W | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.62128825C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128825C>T Locations: - p.Arg66Trp (Ensembl:ENST00000533896) - c.196C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1590603871 | 67 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.62128828A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128828A>G Locations: - p.Lys67Glu (Ensembl:ENST00000533896) - c.199A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs981008294 | 67 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.62128829A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128829A>G Locations: - p.Lys67Arg (Ensembl:ENST00000533896) - c.200A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs377255748 | 70 | R>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62128838G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128838G>C Locations: - p.Arg70Pro (Ensembl:ENST00000533896) - c.209G>C (Ensembl:ENST00000533896) Source type: large scale study | |||||||
COSV53914426 rs377255748 | 70 | R>Q | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000011.10:g.62128838G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128838G>A Locations: - p.Arg70Gln (Ensembl:ENST00000533896) - c.209G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs539279384 | 70 | R>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128837C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128837C>T Locations: - p.Arg70Trp (Ensembl:ENST00000533896) - c.208C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1786018854 | 72 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.62128844C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128844C>G Locations: - p.Ser72Cys (Ensembl:ENST00000533896) - c.215C>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1565090226 | 73 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.62128847_62128848insGCAATTTATCCCTTCCTTACAAGACCTTCCAT Codon: TAT/TAGCAATTTATCCCTTCCTTACAAGACCTTCCATT Consequence type: stop gained Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128847_62128848insGCAATTTATCCCTTCCTTACAAGACCTTCCAT Locations: - p.Tyr73Ter (Ensembl:ENST00000533896) - c.218_219insGCAATTTATCCCTTCCTTACAAGACCTTCCAT (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs765006826 | 73 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.62128847A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128847A>G Locations: - p.Tyr73Cys (Ensembl:ENST00000533896) - c.218A>G (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs762736908 | 75 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000011.10:g.62128853A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128853A>G Locations: - p.Gln75Arg (Ensembl:ENST00000533896) - c.224A>G (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs2134612571 | 76 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000011.10:g.62128857T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128857T>A Locations: - p.Asp76Glu (Ensembl:ENST00000533896) - c.228T>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs764102343 | 76 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.62128856A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128856A>G Locations: - p.Asp76Gly (Ensembl:ENST00000533896) - c.227A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943816632 | 83 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.62128877G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128877G>A Locations: - p.Arg83Lys (Ensembl:ENST00000533896) - c.248G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs767448315 | 83 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62128878G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62128878G>T Locations: - p.Arg83Ser (Ensembl:ENST00000533896) - c.249G>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs769445442 | 85 | R>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.62129782G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129782G>T Locations: - p.Arg85Ser (Ensembl:ENST00000533896) - c.255G>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs554064911 | 86 | L>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.62129784T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129784T>C Locations: - p.Leu86Ser (Ensembl:ENST00000533896) - c.257T>C (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs1221958665 | 87 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129787C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129787C>T Locations: - p.Ser87Phe (Ensembl:ENST00000533896) - c.260C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs763895032 | 88 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129789C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129789C>T Locations: - p.Arg88Cys (Ensembl:ENST00000533896) - c.262C>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs751480395 | 88 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000004143 (gnomAD) Accession: NC_000011.10:g.62129790G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129790G>A Locations: - p.R88H (NCI-TCGA:ENST00000533896) - p.Arg88His (Ensembl:ENST00000533896) - c.263G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943838724 | 91 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62129799C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129799C>T Locations: - p.Ser91Phe (Ensembl:ENST00000533896) - c.272C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV53918864 rs369742634 | 92 | R>Q | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000011.10:g.62129802G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129802G>A Locations: - p.Arg92Gln (Ensembl:ENST00000533896) - c.275G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs139054193 | 92 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62129801C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129801C>T Locations: - p.Arg92Trp (Ensembl:ENST00000533896) - c.274C>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs143979460 | 94 | S>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000011.10:g.62129809C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129809C>G Locations: - p.Ser94Arg (Ensembl:ENST00000533896) - c.282C>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs373398703 | 96 | L>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.62129814T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129814T>C Locations: - p.Leu96Pro (Ensembl:ENST00000533896) - c.287T>C (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs373398703 | 96 | L>Q | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000011.10:g.62129814T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129814T>A Locations: - p.Leu96Gln (Ensembl:ENST00000533896) - c.287T>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs756338232 | 96 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000011.10:g.62129813C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129813C>G Locations: - p.Leu96Val (Ensembl:ENST00000533896) - c.286C>G (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs754113313 | 97 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000011.10:g.62129817G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129817G>A Locations: - p.Ser97Asn (Ensembl:ENST00000533896) - c.290G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs200416661 | 98 | S>C | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129820C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129820C>G Locations: - p.Ser98Cys (Ensembl:ENST00000533896) - c.293C>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs200416661 | 98 | S>F | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129820C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129820C>T Locations: - p.Ser98Phe (Ensembl:ENST00000533896) - c.293C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs146465225 | 99 | R>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.62129823G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129823G>T Locations: - p.Arg99Leu (Ensembl:ENST00000533896) - c.296G>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs146465225 | 99 | R>Q | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.91) Somatic: No Accession: NC_000011.10:g.62129823G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129823G>A Locations: - p.Arg99Gln (Ensembl:ENST00000533896) - c.296G>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
COSV53918763 rs139863209 | 100 | R>C | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000011.10:g.62129825C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129825C>T Locations: - p.Arg100Cys (Ensembl:ENST00000533896) - c.298C>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
VAR_047128 RCV000959980 rs12281503 | 100 | R>H | Benign (Ensembl, ClinVar) | UniProt ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.03315 (ClinVar) Accession: NC_000011.10:g.62129826G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129826G>A Locations: - p.Arg100His (UniProt:Q9NQS7) - p.Arg100His (Ensembl:ENST00000533896) - c.299G>A (Ensembl:ENST00000533896) Source type: mixed | |||||||
rs12281503 | 100 | R>P | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.62129826G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129826G>C Locations: - p.Arg100Pro (Ensembl:ENST00000533896) - c.299G>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV53921765 rs139863209 | 100 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.62129825C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129825C>A Locations: - p.R100S (NCI-TCGA:ENST00000533896) - p.Arg100Ser (Ensembl:ENST00000533896) - c.298C>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs775236514 | 102 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.62129831C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129831C>T Locations: - p.Arg102Cys (Ensembl:ENST00000533896) - c.304C>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs146595346 | 102 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.62129832G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129832G>A Locations: - p.Arg102His (Ensembl:ENST00000533896) - c.305G>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs146595346 | 102 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.62129832G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129832G>T Locations: - p.Arg102Leu (Ensembl:ENST00000533896) - c.305G>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs146595346 | 102 | R>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129832G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129832G>C Locations: - p.Arg102Pro (Ensembl:ENST00000533896) - c.305G>C (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs768473115 | 103 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.79) Somatic: No Accession: NC_000011.10:g.62129835G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129835G>A Locations: - p.Ser103Asn (Ensembl:ENST00000533896) - c.308G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1565090836 | 105 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129840G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129840G>A Locations: - p.Asp105Asn (Ensembl:ENST00000533896) - c.313G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs774070841 | 106 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.62129843A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129843A>G Locations: - p.Ser106Gly (Ensembl:ENST00000533896) - c.316A>G (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs761804843 | 106 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.91) Somatic: No Accession: NC_000011.10:g.62129844G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129844G>A Locations: - p.Ser106Asn (Ensembl:ENST00000533896) - c.317G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs199515936 | 107 | V>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.62129846G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129846G>C Locations: - p.Val107Leu (Ensembl:ENST00000533896) - c.319G>C (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs1027885646 | 109 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.62129854G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129854G>T Locations: - p.Lys109Asn (Ensembl:ENST00000533896) - c.327G>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs2134616814 | 113 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.62129864G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129864G>A Locations: - p.Val113Met (Ensembl:ENST00000533896) - c.337G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1263848933 | 114 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.62129867G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129867G>T Locations: - p.Val114Phe (Ensembl:ENST00000533896) - c.340G>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1263848933 | 114 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.62129867G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129867G>A Locations: - p.Val114Ile (Ensembl:ENST00000533896) - c.340G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV53918489 rs766606953 | 115 | G>R | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.62129870G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129870G>A Locations: - p.Gly115Arg (Ensembl:ENST00000533896) - c.343G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs754070097 | 117 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.62129878C>A, NC_000011.10:g.62129878C>G Codon: AAC/AAA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129878C>A, NC_000011.10:g.62129878C>G Locations: - p.Asn117Lys (Ensembl:ENST00000533896) - c.351C>A (Ensembl:ENST00000533896) - c.351C>G (Ensembl:ENST00000533896) Source type: large scale study | |||||||
COSV53915322 rs1381957043 | 118 | G>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000011.10:g.62129879G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129879G>A Locations: - p.Gly118Ser (Ensembl:ENST00000533896) - c.352G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV53913413 rs765632070 | 119 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003992 (gnomAD) Accession: NC_000011.10:g.62129883C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129883C>T Locations: - p.S119F (NCI-TCGA:ENST00000533896) - p.Ser119Phe (Ensembl:ENST00000533896) - c.356C>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs113310761 | 120 | V>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.85) Somatic: No Accession: NC_000011.10:g.62129885G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129885G>A Locations: - p.Val120Ile (Ensembl:ENST00000533896) - c.358G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs113310761 | 120 | V>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000011.10:g.62129885G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129885G>C Locations: - p.Val120Leu (Ensembl:ENST00000533896) - c.358G>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs924358602 | 121 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.62129889T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129889T>C Locations: - p.Leu121Pro (Ensembl:ENST00000533896) - c.362T>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV53913536 rs151321132 | 122 | R>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.63) Somatic: Yes Accession: NC_000011.10:g.62129892G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129892G>A Locations: - p.Arg122Gln (Ensembl:ENST00000533896) - c.365G>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs755587112 | 122 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129891C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129891C>T Locations: - p.Arg122Trp (Ensembl:ENST00000533896) - c.364C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs375511546 | 123 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62129894C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129894C>T Locations: - p.Arg123Cys (Ensembl:ENST00000533896) - c.367C>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
COSV105127037 rs768258892 | 123 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001598 (gnomAD) Accession: NC_000011.10:g.62129895G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129895G>A Locations: - p.R123H (NCI-TCGA:ENST00000533896) - p.Arg123His (Ensembl:ENST00000533896) - c.368G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs768258892 | 123 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129895G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129895G>T Locations: - p.Arg123Leu (Ensembl:ENST00000533896) - c.368G>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs774127794 | 124 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.62129897G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129897G>C Locations: - p.Val124Leu (Ensembl:ENST00000533896) - c.370G>C (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs747969371 | 125 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62129901C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129901C>T Locations: - p.Thr125Ile (Ensembl:ENST00000533896) - c.374C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1590605405 | 125 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129900A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129900A>C Locations: - p.Thr125Pro (Ensembl:ENST00000533896) - c.373A>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1398835115 | 126 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129903C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129903C>T Locations: - p.Arg126Cys (Ensembl:ENST00000533896) - c.376C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV53920794 rs772094693 | 126 | R>H | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.62129904G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129904G>A Locations: - p.Arg126His (Ensembl:ENST00000533896) - c.377G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs773254306 | 128 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.62129910C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129910C>T Locations: - p.Ala128Val (Ensembl:ENST00000533896) - c.383C>T (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs766470825 | 130 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129916C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129916C>G Locations: - p.Ala130Gly (Ensembl:ENST00000533896) - c.389C>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943843194 | 130 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.62129915G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129915G>A Locations: - p.Ala130Thr (Ensembl:ENST00000533896) - c.388G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs766470825 | 130 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.62129916C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129916C>T Locations: - p.Ala130Val (Ensembl:ENST00000533896) - c.389C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs759740436 | 131 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129919C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129919C>G Locations: - p.Ala131Gly (Ensembl:ENST00000533896) - c.392C>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1440105344 | 131 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.62129918G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129918G>A Locations: - p.Ala131Thr (Ensembl:ENST00000533896) - c.391G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs759740436 | 131 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.62129919C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129919C>T Locations: - p.Ala131Val (Ensembl:ENST00000533896) - c.392C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs147033848 | 133 | A>T | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.62129924G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129924G>A Locations: - p.Ala133Thr (Ensembl:ENST00000533896) - c.397G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1176134926 | 133 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62129925C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129925C>T Locations: - p.Ala133Val (Ensembl:ENST00000533896) - c.398C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1487670910 | 134 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.62129928C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129928C>A Locations: - p.Ala134Asp (Ensembl:ENST00000533896) - c.401C>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1469678980 | 135 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000011.10:g.62129930A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129930A>G Locations: - p.Thr135Ala (Ensembl:ENST00000533896) - c.403A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs764478695 | 135 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.62129931C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129931C>G Locations: - p.Thr135Ser (Ensembl:ENST00000533896) - c.404C>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs779610174 | 136 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000011.10:g.62129935G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129935G>A Locations: - p.Met136Ile (Ensembl:ENST00000533896) - c.408G>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs757817115 | 136 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000011.10:g.62129933A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129933A>G Locations: - p.Met136Val (Ensembl:ENST00000533896) - c.406A>G (Ensembl:ENST00000533896) Source type: large scale study | |||||||
COSV53918967 rs1371442439 | 137 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.19) Somatic: Yes Population frequencies: - MAF: 0.00001195 (gnomAD) Accession: NC_000011.10:g.62129936G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129936G>A Locations: - p.A137T (NCI-TCGA:ENST00000533896) - p.Ala137Thr (Ensembl:ENST00000533896) - c.409G>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
VAR_047129 RCV001708658 rs34441559 | 137 | A>V | Benign (Ensembl, ClinVar) | UniProt ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.04493 (ClinVar) Accession: NC_000011.10:g.62129937C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129937C>T Locations: - p.Ala137Val (UniProt:Q9NQS7) - p.Ala137Val (Ensembl:ENST00000533896) - c.410C>T (Ensembl:ENST00000533896) Source type: mixed | |||||||
rs1283935583 | 139 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000011.10:g.62129942G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129942G>A Locations: - p.Ala139Thr (Ensembl:ENST00000533896) - c.415G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1746638784 | 140 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.62129946C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129946C>T Locations: - p.Ala140Val (Ensembl:ENST00000533896) - c.419C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs754600824 | 141 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62129949C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129949C>T Locations: - p.Pro141Leu (Ensembl:ENST00000533896) - c.422C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1343160943 | 141 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.62129948C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129948C>T Locations: - p.Pro141Ser (Ensembl:ENST00000533896) - c.421C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1343160943 | 141 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.62129948C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129948C>A Locations: - p.Pro141Thr (Ensembl:ENST00000533896) - c.421C>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs778452765 | 143 | S>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000011.10:g.62129955C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129955C>T Locations: - p.Ser143Leu (Ensembl:ENST00000533896) - c.428C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs535923655 | 144 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.62129957C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129957C>G Locations: - p.Pro144Ala (Ensembl:ENST00000533896) - c.430C>G (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs1590605602 | 145 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.62129960A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129960A>C Locations: - p.Thr145Pro (Ensembl:ENST00000533896) - c.433A>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs771971811 | 146 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.62129964C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129964C>A Locations: - p.Pro146His (Ensembl:ENST00000533896) - c.437C>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs771971811 | 146 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.62129964C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129964C>T Locations: - p.Pro146Leu (Ensembl:ENST00000533896) - c.437C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943846005 | 149 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.62129972C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129972C>T Locations: - p.Pro149Ser (Ensembl:ENST00000533896) - c.445C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1020354846 | 150 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.62129976C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129976C>T Locations: - p.Thr150Met (Ensembl:ENST00000533896) - c.449C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943846258 | 151 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.62129980G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129980G>A Locations: - p.Met151Ile (Ensembl:ENST00000533896) - c.453G>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943846187 | 151 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.62129978A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129978A>G Locations: - p.Met151Val (Ensembl:ENST00000533896) - c.451A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs770781175 | 153 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.62129985C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129985C>T Locations: - p.Thr153Ile (Ensembl:ENST00000533896) - c.458C>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs770781175 | 153 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.62129985C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129985C>G Locations: - p.Thr153Ser (Ensembl:ENST00000533896) - c.458C>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943846526 | 155 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.62129990A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129990A>C Locations: - p.Lys155Gln (Ensembl:ENST00000533896) - c.463A>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV99074429 RCV000956951 rs34210125 | 157 | E>K | Benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.00599 (ClinVar) Accession: NC_000011.10:g.62129996G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62129996G>A Locations: - p.Glu157Lys (Ensembl:ENST00000533896) - c.469G>A (Ensembl:ENST00000533896) Source type: large scale study | |||||||
rs1479181944 | 158 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.62130000A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62130000A>T Locations: - p.Asp158Val (Ensembl:ENST00000533896) - c.473A>T (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1172254066 | 159 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.62130004C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62130004C>A Locations: - p.Asn159Lys (Ensembl:ENST00000533896) - c.477C>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs770021592 | 160 | H>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000011.10:g.62130005C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62130005C>A Locations: - p.His160Asn (Ensembl:ENST00000533896) - c.478C>A (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs1943847120 | 161 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000011.10:g.62130008A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62130008A>G Locations: - p.Thr161Ala (Ensembl:ENST00000533896) - c.481A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs763214600 | 162 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000011.10:g.62130012A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62130012A>G Locations: - p.Gln162Arg (Ensembl:ENST00000533896) - c.485A>G (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs200221164 | 163 | C>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000011.10:g.62130014T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62130014T>C Locations: - p.Cys163Arg (Ensembl:ENST00000533896) - c.487T>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
COSV53914776 rs868550478 | 164 | Q>P | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.41) Somatic: Yes Accession: NC_000011.10:g.62130018A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62130018A>C Locations: - p.Gln164Pro (Ensembl:ENST00000533896) - c.491A>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: | |||||||
rs533613179 | 166 | V>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.62130023G>T, NC_000011.10:g.62130023G>C Codon: GTG/TTG Consequence type: missense Cytogenetic band: 11q12.3 Genomic location: NC_000011.10:g.62130023G>T, NC_000011.10:g.62130023G>C Locations: - p.Val166Leu (Ensembl:ENST00000533896) - c.496G>T (Ensembl:ENST00000533896) - c.496G>C (Ensembl:ENST00000533896) Source type: large scale study Cross-references: |