Q9BT78 · CSN4_HUMAN
- ProteinCOP9 signalosome complex subunit 4
- GeneCOPS4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids406 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1416509062 | 2 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000004.12:g.83035229C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035229C>A Locations: - p.Ala2Glu (Ensembl:ENST00000264389) - c.5C>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1402556773 | 2 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000004.12:g.83035228G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035228G>T Locations: - p.Ala2Ser (Ensembl:ENST00000264389) - c.4G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1272276678 | 3 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000004.12:g.83035231G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035231G>A Locations: - p.Ala3Thr (Ensembl:ENST00000264389) - c.7G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs770489427 | 3 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000004.12:g.83035232C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035232C>T Locations: - p.Ala3Val (Ensembl:ENST00000264389) - c.8C>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs776081661 | 4 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000004.12:g.83035234G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035234G>C Locations: - p.Ala4Pro (Ensembl:ENST00000264389) - c.10G>C (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs139460382 | 4 | A>V | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000004.12:g.83035235C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035235C>T Locations: - p.Ala4Val (Ensembl:ENST00000264389) - c.11C>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs1578698384 | 5 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83035238T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035238T>G Locations: - p.Val5Gly (Ensembl:ENST00000264389) - c.14T>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV107269005 | 5 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83035237G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83035237G>T Locations: - p.Val5Leu (cosmic curated:ENST00000264389) - c.13G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs762275059 | 6 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.83035240C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035240C>T Locations: - p.Arg6Ter (Ensembl:ENST00000264389) - c.16C>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs762275059 | 6 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.405) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.83035240C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035240C>G Locations: - p.Arg6Gly (Ensembl:ENST00000264389) - c.16C>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV100018582 | 6 | R>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.806) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.83035241G>C Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035241G>C Locations: - p.R6P (NCI-TCGA:ENST00000264389) - p.Arg6Pro (cosmic curated:ENST00000264389) - c.17G>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 7 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000004.12:g.83035245G>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035245G>T Locations: - c.21G>T (NCI-TCGA:ENST00000264389) - p.Q7H (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52316913 | 7 | Q>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83035244A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83035244A>C Locations: - p.Gln7Pro (cosmic curated:ENST00000264389) - c.20A>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs773327561 | 8 | D>G | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000004.12:g.83035247A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035247A>G Locations: - p.Asp8Gly (Ensembl:ENST00000264389) - c.23A>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV52318073 rs1239600446 | 8 | D>Y | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000004.12:g.83035246G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035246G>T Locations: - p.Asp8Tyr (Ensembl:ENST00000264389) - c.22G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs760610241 | 10 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.83035253C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035253C>T Locations: - p.Ala10Val (Ensembl:ENST00000264389) - c.29C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs753963893 | 11 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.83035257G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035257G>C Locations: - p.Gln11His (Ensembl:ENST00000264389) - c.33G>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs766481428 | 11 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000004.12:g.83035256A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035256A>C Locations: - p.Gln11Pro (Ensembl:ENST00000264389) - c.32A>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs766481428 | 11 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000004.12:g.83035256A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035256A>G Locations: - p.Gln11Arg (Ensembl:ENST00000264389) - c.32A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs752609348 | 13 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000004.12:g.83035263G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035263G>C Locations: - p.Met13Ile (Ensembl:ENST00000264389) - c.39G>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs755247710 | 13 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000004.12:g.83035261A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035261A>T Locations: - p.Met13Leu (Ensembl:ENST00000264389) - c.37A>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs1730387304 | 13 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000004.12:g.83035262T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035262T>C Locations: - p.Met13Thr (Ensembl:ENST00000264389) - c.38T>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs755247710 | 13 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000004.12:g.83035261A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035261A>G Locations: - p.Met13Val (Ensembl:ENST00000264389) - c.37A>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
TCGA novel | 15 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000004.12:g.83035268C>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035268C>T Locations: - c.44C>T (NCI-TCGA:ENST00000264389) - p.S15L (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100018584 | 17 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.391) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000004.12:g.83035274G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035274G>A Locations: - p.G17D (NCI-TCGA:ENST00000264389) - p.Gly17Asp (cosmic curated:ENST00000264389) - c.50G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1239992276 | 17 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.83035274G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035274G>T Locations: - p.Gly17Val (Ensembl:ENST00000264389) - c.50G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52315896 rs1038167837 rs1038167837,COSV52315896 | 18 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.791) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000004.12:g.83035277C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035277C>G Locations: - p.S18C (NCI-TCGA:ENST00000264389) - p.Ser18Cys (Ensembl:ENST00000264389) - c.53C>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs1437275525 | 19 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.669) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.83035279C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035279C>T Locations: - p.His19Tyr (Ensembl:ENST00000264389) - c.55C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs13149890 | 21 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000004.12:g.83035287T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035287T>A Locations: - p.Asp21Glu (Ensembl:ENST00000264389) - c.63T>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs777798814 | 21 | D>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.666) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83035285G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035285G>T Locations: - p.Asp21Tyr (Ensembl:ENST00000264389) - c.61G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018362 COSV100018362,COSV52314359 COSV52314359 | 22 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.564) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000004.12:g.83035288C>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035288C>A Locations: - p.L22M (NCI-TCGA:ENST00000264389) - p.Leu22Met (cosmic curated:ENST00000264389) - c.64C>A (cosmic curated:ENST00000264389) Source type: large scale study | |||||||
rs200382738 | 23 | A>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000004.12:g.83035292C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035292C>G Locations: - p.Ala23Gly (Ensembl:ENST00000264389) - c.68C>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1202435909 | 23 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000004.12:g.83035291G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035291G>A Locations: - p.Ala23Thr (Ensembl:ENST00000264389) - c.67G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs200382738 | 23 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000004.12:g.83035292C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035292C>T Locations: - p.Ala23Val (Ensembl:ENST00000264389) - c.68C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs146497300 | 24 | G>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.83035295G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83035295G>T Locations: - p.Gly24Val (Ensembl:ENST00000264389) - c.71G>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV52314974 rs757691653 | 27 | R>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.83045630C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045630C>T Locations: - p.Arg27Cys (Ensembl:ENST00000264389) - c.79C>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs201720335 | 27 | R>H | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.83045631G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045631G>A Locations: - p.Arg27His (Ensembl:ENST00000264389) - c.80G>A (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs781748264 | 28 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Population frequencies: - MAF: 0.000003981 (gnomAD) Accession: NC_000004.12:g.83045635G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045635G>T Locations: - p.Q28H (NCI-TCGA:ENST00000264389) - p.Gln28His (Ensembl:ENST00000264389) - c.84G>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs780535209 | 29 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000004.12:g.83045636A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045636A>G Locations: - p.Ile29Val (Ensembl:ENST00000264389) - c.85A>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV52317475 | 30 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83045639C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83045639C>A Locations: - p.Leu30Met (cosmic curated:ENST00000264389) - c.88C>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs555889521 | 32 | K>N | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000004.12:g.83045647A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045647A>T Locations: - p.Lys32Asn (Ensembl:ENST00000264389) - c.96A>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
TCGA novel | 33 | A>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.83045643del Consequence type: frameshift Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045643del Locations: - c.96del (NCI-TCGA:ENST00000264389) - p.A33Pfs*10 (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs755750625 | 33 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.83045648G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045648G>A Locations: - p.Ala33Thr (Ensembl:ENST00000264389) - c.97G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018414 | 33 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.58) Somatic: Yes Accession: NC_000004.12:g.83045649C>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045649C>T Locations: - p.A33V (NCI-TCGA:ENST00000264389) - p.Ala33Val (cosmic curated:ENST00000264389) - c.98C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs914631581 | 34 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000004.12:g.83045651A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045651A>G Locations: - p.Ile34Val (Ensembl:ENST00000264389) - c.100A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1345201418 | 35 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000004.12:g.83045654C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045654C>A Locations: - p.Gln35Lys (Ensembl:ENST00000264389) - c.103C>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1730689823 | 37 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000004.12:g.83045660T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045660T>C Locations: - p.Ser37Pro (Ensembl:ENST00000264389) - c.109T>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs922886002 | 38 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000004.12:g.83045664G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045664G>C Locations: - p.Gly38Ala (Ensembl:ENST00000264389) - c.113G>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52315093 | 38 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83045663G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83045663G>A Locations: - p.Gly38Arg (cosmic curated:ENST00000264389) - c.112G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313573 | 39 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83045666G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83045666G>T Locations: - p.Ala39Ser (cosmic curated:ENST00000264389) - c.115G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1042319576 | 40 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000004.12:g.83045670A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045670A>C Locations: - p.Glu40Ala (Ensembl:ENST00000264389) - c.119A>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs748940929 | 40 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000004.12:g.83045669G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045669G>A Locations: - p.Glu40Lys (Ensembl:ENST00000264389) - c.118G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1361338719 | 43 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.83045679A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045679A>G Locations: - p.Glu43Gly (Ensembl:ENST00000264389) - c.128A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1162756792 | 43 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000004.12:g.83045678G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045678G>C Locations: - p.Glu43Gln (Ensembl:ENST00000264389) - c.127G>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs2126128653 | 44 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000004.12:g.83045681G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045681G>A Locations: - p.Ala44Thr (Ensembl:ENST00000264389) - c.130G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1402118127 | 45 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.83045686G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045686G>T Locations: - p.Leu45Phe (Ensembl:ENST00000264389) - c.135G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1730691346 | 46 | K>MC | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.83045687_83045688insTGTGTATTT Codon: AAA/ATGTGTATTTAA Consequence type: stop gained Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045687_83045688insTGTGTATTT Locations: - p.Lys46delinsMetCysIleTer (Ensembl:ENST00000264389) - c.136_137insTGTGTATTT (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs778220217 | 46 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.83045689A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045689A>T Locations: - p.Lys46Asn (Ensembl:ENST00000264389) - c.138A>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV105088975 | 50 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83045699G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83045699G>A Locations: - p.Glu50Lys (cosmic curated:ENST00000264389) - c.148G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1730795362 | 52 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000004.12:g.83049167G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049167G>A Locations: - p.Met52Ile (Ensembl:ENST00000264389) - c.156G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313776 rs775763443 | 52 | M>R | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83049166T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049166T>G Locations: - p.Met52Arg (Ensembl:ENST00000264389) - c.155T>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs747449241 | 52 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000004.12:g.83045705A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83045705A>G Locations: - p.Met52Val (Ensembl:ENST00000264389) - c.154A>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV105088973 | 54 | N>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049172A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83049172A>T Locations: - p.Asn54Ile (cosmic curated:ENST00000264389) - c.161A>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs945738423 | 55 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.83049175A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049175A>G Locations: - p.Glu55Gly (Ensembl:ENST00000264389) - c.164A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1730796124 | 56 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000004.12:g.83049178A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049178A>G Locations: - p.Asn56Ser (Ensembl:ENST00000264389) - c.167A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1730795978 | 56 | N>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83049177A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049177A>T Locations: - p.Asn56Tyr (Ensembl:ENST00000264389) - c.166A>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314766 rs1730796710 | 60 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: deleterious (0.02) - PolyPhen: benign (0.166) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000004.12:g.83049190T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049190T>C Locations: - p.V60A (NCI-TCGA:ENST00000264389) - p.Val60Ala (Ensembl:ENST00000264389) - c.179T>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018504 COSV100018801 rs768988116 | 60 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.58) - SIFT: deleterious (0) - PolyPhen: benign (0.436) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83049189G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049189G>T Locations: - p.V60L (NCI-TCGA:ENST00000264389) - p.Val60Leu (Ensembl:ENST00000264389) - c.178G>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV100018504 rs768988116 | 60 | V>M | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000004.12:g.83049189G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049189G>A Locations: - p.Val60Met (Ensembl:ENST00000264389) - c.178G>A (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs767220114 | 61 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.677) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83049194C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049194C>G Locations: - p.Ile61Met (Ensembl:ENST00000264389) - c.183C>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs761610880 | 61 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000004.12:g.83049192A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049192A>G Locations: - p.Ile61Val (Ensembl:ENST00000264389) - c.181A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018385 | 62 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83049196C>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049196C>T Locations: - p.S62L (NCI-TCGA:ENST00000264389) - p.Ser62Leu (cosmic curated:ENST00000264389) - c.185C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52315145 | 63 | R>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049198C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83049198C>T Locations: - p.Arg63Trp (cosmic curated:ENST00000264389) - c.187C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1730797471 | 68 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000004.12:g.83049215T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049215T>G Locations: - p.Asp68Glu (Ensembl:ENST00000264389) - c.204T>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314937 | 70 | C>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049221C>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049221C>A Locations: - p.C70* (NCI-TCGA:ENST00000264389) - p.Cys70Ter (cosmic curated:ENST00000264389) - c.210C>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs552965924 | 70 | C>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000004.12:g.83049219T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049219T>A Locations: - p.Cys70Ser (Ensembl:ENST00000264389) - c.208T>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs765851397 | 71 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.83049223C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049223C>T Locations: - p.Thr71Ile (Ensembl:ENST00000264389) - c.212C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1360660672 | 73 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.83049228C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049228C>A Locations: - p.Leu73Ile (Ensembl:ENST00000264389) - c.217C>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs764888882 | 77 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000004.12:g.83049240C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049240C>T Locations: - p.Pro77Ser (Ensembl:ENST00000264389) - c.229C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs752301359 | 78 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.83049245T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049245T>A Locations: - p.Asp78Glu (Ensembl:ENST00000264389) - c.234T>A (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs1448280057 | 79 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000004.12:g.83049246A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049246A>G Locations: - p.Ser79Gly (Ensembl:ENST00000264389) - c.235A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs757605970 | 79 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.83049247G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049247G>T Locations: - p.Ser79Ile (Ensembl:ENST00000264389) - c.236G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1372111457 | 80 | T>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000004.12:g.83049250C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049250C>G Locations: - p.Thr80Arg (Ensembl:ENST00000264389) - c.239C>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1262016810 | 82 | K>R | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.83049256A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049256A>G Locations: - p.Lys82Arg (Ensembl:ENST00000264389) - c.245A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018798 | 83 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049258G>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049258G>T Locations: - p.E83* (NCI-TCGA:ENST00000264389) - p.Glu83Ter (cosmic curated:ENST00000264389) - c.247G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313620 | 85 | Y>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049265A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83049265A>G Locations: - p.Tyr85Cys (cosmic curated:ENST00000264389) - c.254A>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018818 COSV100018818,COSV52313620 COSV52313620 | 85 | Y>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.27) Somatic: Yes Accession: NC_000004.12:g.83049265A>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049265A>T Locations: - p.Y85F (NCI-TCGA:ENST00000264389) - p.Tyr85Phe (cosmic curated:ENST00000264389) - c.254A>T (cosmic curated:ENST00000264389) Source type: large scale study | |||||||
rs1310800862 | 88 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000004.12:g.83049274C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049274C>T Locations: - p.Thr88Ile (Ensembl:ENST00000264389) - c.263C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV104579092 | 88 | T>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049273A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83049273A>C Locations: - p.Thr88Pro (cosmic curated:ENST00000264389) - c.262A>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1223336781 | 90 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.83049280A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049280A>G Locations: - p.Glu90Gly (Ensembl:ENST00000264389) - c.269A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1730799433 | 91 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83049282A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049282A>G Locations: - p.Lys91Glu (Ensembl:ENST00000264389) - c.271A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 92 | I>D | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.83049279_83049280insA Consequence type: frameshift Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049279_83049280insA Locations: - c.272dup (NCI-TCGA:ENST00000264389) - p.I92Dfs*4 (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV104579084 | 93 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049288C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83049288C>T Locations: - p.Gln93Ter (cosmic curated:ENST00000264389) - c.277C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1259198547 | 93 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.83049290G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049290G>C Locations: - p.Gln93His (Ensembl:ENST00000264389) - c.279G>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 95 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83049295G>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049295G>T Locations: - c.284G>T (NCI-TCGA:ENST00000264389) - p.R95I (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52315646 | 101 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83049312G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049312G>A Locations: - p.E101K (NCI-TCGA:ENST00000264389) - p.Glu101Lys (cosmic curated:ENST00000264389) - c.301G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 102 | Q>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: - Somatic: No Accession: NC_000004.12:g.83049317G>A Consequence type: - Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049317G>A Locations: - c.306G>A (NCI-TCGA:ENST00000264389) - p.Q102= (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100018359 | 102 | Q>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83049316A>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049316A>T Locations: - p.Q102L (NCI-TCGA:ENST00000264389) - p.Gln102Leu (cosmic curated:ENST00000264389) - c.305A>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 103 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.83049881G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049881G>A Locations: - c.307G>A (NCI-TCGA:ENST00000264389) - p.V103I (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1320558692 | 105 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000004.12:g.83049887T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049887T>G Locations: - p.Ser105Ala (Ensembl:ENST00000264389) - c.313T>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313718 | 105 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000004.12:g.83049888C>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049888C>T Locations: - p.S105F (NCI-TCGA:ENST00000264389) - p.Ser105Phe (cosmic curated:ENST00000264389) - c.314C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs766363793 | 106 | I>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.83049890A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049890A>G Locations: - p.Ile106Val (Ensembl:ENST00000264389) - c.316A>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs1730848875 | 109 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000004.12:g.83049900A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049900A>G Locations: - p.His109Arg (Ensembl:ENST00000264389) - c.326A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314636 | 110 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049902C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83049902C>A Locations: - p.Leu110Ile (cosmic curated:ENST00000264389) - c.328C>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316465 | 111 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049906C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83049906C>T Locations: - p.Ala111Val (cosmic curated:ENST00000264389) - c.332C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1223943127 | 112 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000004.12:g.83049908T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049908T>A Locations: - p.Ser112Thr (Ensembl:ENST00000264389) - c.334T>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1327127994 | 114 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83049915A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049915A>G Locations: - p.Tyr114Cys (Ensembl:ENST00000264389) - c.341A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314745 | 117 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049923G>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049923G>T Locations: - p.E117* (NCI-TCGA:ENST00000264389) - p.Glu117Ter (cosmic curated:ENST00000264389) - c.349G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs759023199 | 119 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.83049930A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049930A>G Locations: - p.Asp119Gly (Ensembl:ENST00000264389) - c.356A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 120 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.83049933G>A Consequence type: stop gained Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049933G>A Locations: - c.359G>A (NCI-TCGA:ENST00000264389) - p.W120* (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1730849780 | 120 | W>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.83049934G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049934G>C Locations: - p.Trp120Cys (Ensembl:ENST00000264389) - c.360G>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1177637376 | 122 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.83049939A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049939A>G Locations: - p.Asn122Ser (Ensembl:ENST00000264389) - c.365A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018396 | 126 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.39) Somatic: Yes Accession: NC_000004.12:g.83049950G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049950G>A Locations: - p.V126M (NCI-TCGA:ENST00000264389) - p.Val126Met (cosmic curated:ENST00000264389) - c.376G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV107268971 | 129 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049960G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83049960G>A Locations: - p.Gly129Glu (cosmic curated:ENST00000264389) - c.386G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52318207 | 129 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049959G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83049959G>C Locations: - p.Gly129Arg (cosmic curated:ENST00000264389) - c.385G>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1730850231 | 130 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83049963T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049963T>C Locations: - p.Ile130Thr (Ensembl:ENST00000264389) - c.389T>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV105860682 | 132 | L>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83049969T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83049969T>C Locations: - p.Leu132Ser (cosmic curated:ENST00000264389) - c.395T>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314146 | 135 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83049978G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049978G>A Locations: - p.G135E (NCI-TCGA:ENST00000264389) - p.Gly135Glu (cosmic curated:ENST00000264389) - c.404G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313921 | 136 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000004.12:g.83049981A>G Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83049981A>G Locations: - p.Q136R (NCI-TCGA:ENST00000264389) - p.Gln136Arg (cosmic curated:ENST00000264389) - c.407A>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731029653 | 138 | Q>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000004.12:g.83056928A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056928A>T Locations: - p.Gln138Leu (Ensembl:ENST00000264389) - c.413A>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731029653 | 138 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.83056928A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056928A>C Locations: - p.Gln138Pro (Ensembl:ENST00000264389) - c.413A>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV105088974 | 140 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83056934A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83056934A>G Locations: - p.Asn140Ser (cosmic curated:ENST00000264389) - c.419A>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018690 | 143 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.83056943A>G Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056943A>G Locations: - p.Y143C (NCI-TCGA:ENST00000264389) - p.Tyr143Cys (cosmic curated:ENST00000264389) - c.428A>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1158870043 | 144 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.83056946A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056946A>G Locations: - p.Lys144Arg (Ensembl:ENST00000264389) - c.431A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1362130205 | 145 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.83056948C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056948C>G Locations: - p.Leu145Val (Ensembl:ENST00000264389) - c.433C>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731030273 | 146 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000004.12:g.83056953G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056953G>T Locations: - p.Glu146Asp (Ensembl:ENST00000264389) - c.438G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316364 | 146 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000004.12:g.83056951G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056951G>A Locations: - p.E146K (NCI-TCGA:ENST00000264389) - p.Glu146Lys (cosmic curated:ENST00000264389) - c.436G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731030359 | 147 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000004.12:g.83056955C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056955C>T Locations: - p.Thr147Ile (Ensembl:ENST00000264389) - c.440C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs759418538 | 149 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.83056962G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056962G>T Locations: - p.Leu149Phe (Ensembl:ENST00000264389) - c.447G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314371 | 151 | I>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83056968T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83056968T>G Locations: - p.Ile151Met (cosmic curated:ENST00000264389) - c.453T>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 155 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83056978T>C Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056978T>C Locations: - c.463T>C (NCI-TCGA:ENST00000264389) - p.Y155H (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1731031114 | 158 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000004.12:g.83056989T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056989T>G Locations: - p.Asp158Glu (Ensembl:ENST00000264389) - c.474T>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs763898747 | 158 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.39) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.83056987G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056987G>A Locations: - p.Asp158Asn (Ensembl:ENST00000264389) - c.472G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV105088968 | 161 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83056997C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83056997C>T Locations: - p.Pro161Leu (cosmic curated:ENST00000264389) - c.482C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV108052678 rs1257573199 | 161 | P>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.23) Somatic: Yes Accession: NC_000004.12:g.83056996C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056996C>T Locations: - p.Pro161Ser (Ensembl:ENST00000264389) - c.481C>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV105860679 | 161 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83056996C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83056996C>A Locations: - p.Pro161Thr (cosmic curated:ENST00000264389) - c.481C>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1306607329 | 162 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.83056999G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83056999G>A Locations: - p.Val162Ile (Ensembl:ENST00000264389) - c.484G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1311660242 | 164 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83057006C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057006C>T Locations: - p.Ala164Val (Ensembl:ENST00000264389) - c.491C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52317231 | 167 | Y>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057015A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057015A>G Locations: - p.Tyr167Cys (cosmic curated:ENST00000264389) - c.500A>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731031671 | 168 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.83057017A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057017A>G Locations: - p.Ile168Val (Ensembl:ENST00000264389) - c.502A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313980 | 169 | N>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.83057020A>C Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057020A>C Locations: - p.N169H (NCI-TCGA:ENST00000264389) - p.Asn169His (cosmic curated:ENST00000264389) - c.505A>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV107269015 | 170 | R>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057023C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057023C>G Locations: - p.Arg170Gly (cosmic curated:ENST00000264389) - c.508C>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52315066 | 170 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057024G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057024G>A Locations: - p.Arg170Gln (cosmic curated:ENST00000264389) - c.509G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731031886 | 172 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.875) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83057030C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057030C>T Locations: - p.Ser172Leu (Ensembl:ENST00000264389) - c.515C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314856 | 177 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.15) - SIFT: tolerated (0.3) Somatic: Yes Accession: NC_000004.12:g.83057044G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057044G>A Locations: - p.E177K (NCI-TCGA:ENST00000264389) - p.Glu177Lys (cosmic curated:ENST00000264389) - c.529G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV105088971 | 178 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057048C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057048C>T Locations: - p.Ser178Leu (cosmic curated:ENST00000264389) - c.533C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316955 | 179 | T>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057050A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057050A>G Locations: - p.Thr179Ala (cosmic curated:ENST00000264389) - c.535A>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1443467460 | 179 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000004.12:g.83057051C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057051C>G Locations: - p.Thr179Ser (Ensembl:ENST00000264389) - c.536C>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1168878990 | 180 | N>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.83057054A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057054A>G Locations: - p.Asn180Ser (Ensembl:ENST00000264389) - c.539A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1298912506 | 181 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.83057057A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057057A>C Locations: - p.Glu181Ala (Ensembl:ENST00000264389) - c.542A>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs993843326 | 182 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.83057061A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057061A>C Locations: - p.Gln182His (Ensembl:ENST00000264389) - c.546A>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1468310372 | 185 | I>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83057069T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057069T>A Locations: - p.Ile185Lys (Ensembl:ENST00000264389) - c.554T>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs777908150 | 186 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.94) Somatic: No Accession: NC_000004.12:g.83057071C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057071C>T Locations: - p.His186Tyr (Ensembl:ENST00000264389) - c.556C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs747266593 | 188 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.173) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.83057078A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057078A>G Locations: - p.Lys188Arg (Ensembl:ENST00000264389) - c.563A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52315726 | 192 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83057267G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057267G>A Locations: - p.A192T (NCI-TCGA:ENST00000264389) - p.Ala192Thr (cosmic curated:ENST00000264389) - c.574G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs753254618 | 193 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.83057270C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057270C>T Locations: - p.Arg193Cys (Ensembl:ENST00000264389) - c.577C>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs1479175055 | 193 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83057271G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057271G>A Locations: - p.Arg193His (Ensembl:ENST00000264389) - c.578G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52317172 | 196 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057279G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057279G>C Locations: - p.Asp196His (cosmic curated:ENST00000264389) - c.586G>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018410 | 196 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83057280A>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057280A>T Locations: - p.D196V (NCI-TCGA:ENST00000264389) - p.Asp196Val (cosmic curated:ENST00000264389) - c.587A>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1429149409 | 197 | Y>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000004.12:g.83057283A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057283A>T Locations: - p.Tyr197Phe (Ensembl:ENST00000264389) - c.590A>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 201 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83057296C>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057296C>A Locations: - c.603C>A (NCI-TCGA:ENST00000264389) - p.F201L (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1371188471 | 202 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.83057298T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057298T>C Locations: - p.Ile202Thr (Ensembl:ENST00000264389) - c.605T>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs796066640 | 204 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83057304C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057304C>A Locations: - p.Ala204Asp (Ensembl:ENST00000264389) - c.611C>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018554 | 204 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057303G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057303G>T Locations: - p.Ala204Ser (cosmic curated:ENST00000264389) - c.610G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs745710271 | 209 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.724) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.83057318A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057318A>G Locations: - p.Asn209Asp (Ensembl:ENST00000264389) - c.625A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs2126131723 | 209 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.64) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000004.12:g.83057320T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057320T>G Locations: - p.Asn209Lys (Ensembl:ENST00000264389) - c.627T>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314471 | 209 | N>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: Yes Accession: NC_000004.12:g.83057317_83057324del Consequence type: frameshift Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057317_83057324del Locations: - c.624_631del (NCI-TCGA:ENST00000264389) - p.N209Lfs*10 (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs755952178 | 209 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.479) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000004.12:g.83057319A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057319A>G Locations: - p.Asn209Ser (Ensembl:ENST00000264389) - c.626A>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs1348533258 | 210 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83057321G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057321G>A Locations: - p.Glu210Lys (Ensembl:ENST00000264389) - c.628G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs768231411 | 214 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000004.12:g.83057334A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057334A>G Locations: - p.Lys214Arg (Ensembl:ENST00000264389) - c.641A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs774049558 | 216 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000004.12:g.83057339A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057339A>G Locations: - p.Ile216Val (Ensembl:ENST00000264389) - c.646A>G (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs747768262 | 217 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.524) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003991 (gnomAD) Accession: NC_000004.12:g.83057343T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057343T>C Locations: - p.V217A (NCI-TCGA:ENST00000264389) - p.Val217Ala (Ensembl:ENST00000264389) - c.650T>C (Ensembl:ENST00000264389) Source type: large scale study | |||||||
TCGA novel | 218 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000004.12:g.83057345C>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057345C>A Locations: - c.652C>A (NCI-TCGA:ENST00000264389) - p.H218N (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52313536 | 219 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.418) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.83057348G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057348G>A Locations: - p.E219K (NCI-TCGA:ENST00000264389) - p.Glu219Lys (cosmic curated:ENST00000264389) - c.655G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs777038755 | 220 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000004.12:g.83057352G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057352G>A Locations: - p.Ser220Asn (Ensembl:ENST00000264389) - c.659G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV107268963 | 221 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057354G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057354G>C Locations: - p.Glu221Gln (cosmic curated:ENST00000264389) - c.661G>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313901 | 222 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057358G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057358G>A Locations: - p.Arg222Lys (cosmic curated:ENST00000264389) - c.665G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314680 | 222 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057359A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057359A>C Locations: - p.Arg222Ser (cosmic curated:ENST00000264389) - c.666A>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018847 | 223 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.206) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000004.12:g.83057361T>C Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057361T>C Locations: - p.L223P (NCI-TCGA:ENST00000264389) - p.Leu223Pro (cosmic curated:ENST00000264389) - c.668T>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316345 | 225 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057367C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057367C>A Locations: - p.Ala225Asp (cosmic curated:ENST00000264389) - c.674C>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs765668530 | 225 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.83057366G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057366G>A Locations: - p.Ala225Thr (Ensembl:ENST00000264389) - c.673G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316144 rs1731042850 | 225 | A>V | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000004.12:g.83057367C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057367C>T Locations: - p.Ala225Val (Ensembl:ENST00000264389) - c.674C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs775815859 | 227 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000004.12:g.83057372A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057372A>C Locations: - p.Lys227Gln (Ensembl:ENST00000264389) - c.679A>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314724 | 229 | A>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057379C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057379C>G Locations: - p.Ala229Gly (cosmic curated:ENST00000264389) - c.686C>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731043261 | 231 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000004.12:g.83057386C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057386C>A Locations: - p.His231Gln (Ensembl:ENST00000264389) - c.693C>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316127 | 233 | T>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83057390A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83057390A>G Locations: - p.Thr233Ala (cosmic curated:ENST00000264389) - c.697A>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018803 COSV100018803,COSV52317650 COSV52317650 | 238 | A>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: - Somatic: No Accession: NC_000004.12:g.83057407A>T Consequence type: - Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057407A>T Locations: - c.714A>T (NCI-TCGA:ENST00000264389) - p.A238= (NCI-TCGA:ENST00000264389) Source type: large scale study | |||||||
rs535518390 | 238 | A>P | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83057405G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83057405G>C Locations: - p.Ala238Pro (Ensembl:ENST00000264389) - c.712G>C (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV52316073 | 240 | Q>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063078C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063078C>G Locations: - p.Gln240Glu (cosmic curated:ENST00000264389) - c.718C>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 242 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83063084C>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063084C>T Locations: - c.724C>T (NCI-TCGA:ENST00000264389) - p.R242C (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52316935 rs945621781 | 242 | R>H | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.83063085G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063085G>A Locations: - p.Arg242His (Ensembl:ENST00000264389) - c.725G>A (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs945621781 | 242 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83063085G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063085G>T Locations: - p.Arg242Leu (Ensembl:ENST00000264389) - c.725G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV107268997 | 244 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063091G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063091G>T Locations: - p.Arg244Leu (cosmic curated:ENST00000264389) - c.731G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52317598 rs1731203095 | 244 | R>Q | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.83063091G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063091G>A Locations: - p.Arg244Gln (Ensembl:ENST00000264389) - c.731G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV105088972 | 244 | R>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063090C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063090C>T Locations: - p.Arg244Trp (cosmic curated:ENST00000264389) - c.730C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1163173607 | 245 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.83063095G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063095G>T Locations: - p.Met245Ile (Ensembl:ENST00000264389) - c.735G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs767664893 | 247 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83063100C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063100C>T Locations: - p.Ala247Val (Ensembl:ENST00000264389) - c.740C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313498 | 249 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83063105C>G Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063105C>G Locations: - p.L249V (NCI-TCGA:ENST00000264389) - p.Leu249Val (cosmic curated:ENST00000264389) - c.745C>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs2126133225 | 256 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.925) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83063128G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063128G>T Locations: - p.Gln256His (Ensembl:ENST00000264389) - c.768G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs2126133228 | 257 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000004.12:g.83063131A>T Codon: CAA/CAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063131A>T Locations: - p.Gln257His (Ensembl:ENST00000264389) - c.771A>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1445390754 | 257 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000004.12:g.83063129C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063129C>A Locations: - p.Gln257Lys (Ensembl:ENST00000264389) - c.769C>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs2126133230 | 260 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000004.12:g.83063138G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063138G>T Locations: - p.Ala260Ser (Ensembl:ENST00000264389) - c.778G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1175510771 | 261 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.83063142A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063142A>G Locations: - p.Tyr261Cys (Ensembl:ENST00000264389) - c.782A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018425 | 267 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063161G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063161G>T Locations: - p.Met267Ile (cosmic curated:ENST00000264389) - c.801G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018422 | 267 | M>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063160T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063160T>A Locations: - p.Met267Lys (cosmic curated:ENST00000264389) - c.800T>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1489795123 | 268 | Y>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.133) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.83063163A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063163A>T Locations: - p.Tyr268Phe (Ensembl:ENST00000264389) - c.803A>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316827 | 268 | Y>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063162T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063162T>C Locations: - p.Tyr268His (cosmic curated:ENST00000264389) - c.802T>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018598 COSV100018598,COSV52316486 COSV52316486 | 270 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83063168G>C Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063168G>C Locations: - p.D270H (NCI-TCGA:ENST00000264389) - p.Asp270His (cosmic curated:ENST00000264389) - c.808G>C (cosmic curated:ENST00000264389) Source type: large scale study | |||||||
COSV52316486 | 270 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063168G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063168G>T Locations: - p.Asp270Tyr (cosmic curated:ENST00000264389) - c.808G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52317456 | 271 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.83063172G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063172G>A Locations: - p.R271K (NCI-TCGA:ENST00000264389) - p.Arg271Lys (cosmic curated:ENST00000264389) - c.812G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 272 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83063175T>C Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063175T>C Locations: - c.815T>C (NCI-TCGA:ENST00000264389) - p.I272T (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52315680 | 275 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.77) Somatic: Yes Accession: NC_000004.12:g.83063183G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063183G>A Locations: - p.G275R (NCI-TCGA:ENST00000264389) - p.Gly275Arg (cosmic curated:ENST00000264389) - c.823G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1160022158 | 276 | N>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.83063187A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063187A>T Locations: - p.Asn276Ile (Ensembl:ENST00000264389) - c.827A>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52318229 | 279 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063195C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063195C>T Locations: - p.Gln279Ter (cosmic curated:ENST00000264389) - c.835C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1259360303 | 279 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000004.12:g.83063195C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063195C>G Locations: - p.Gln279Glu (Ensembl:ENST00000264389) - c.835C>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731206174 | 280 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000004.12:g.83063200A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063200A>C Locations: - p.Glu280Asp (Ensembl:ENST00000264389) - c.840A>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1485775097 | 282 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000004.12:g.83063204G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063204G>T Locations: - p.Ala282Ser (Ensembl:ENST00000264389) - c.844G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV104579103 | 283 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063208C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063208C>T Locations: - p.Ala283Val (cosmic curated:ENST00000264389) - c.848C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313704 | 284 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063212G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063212G>A Locations: - p.Met284Ile (cosmic curated:ENST00000264389) - c.852G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1373487488 | 284 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000004.12:g.83063210A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063210A>G Locations: - p.Met284Val (Ensembl:ENST00000264389) - c.850A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1404948025 | 286 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000004.12:g.83063218G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063218G>A Locations: - p.Met286Ile (Ensembl:ENST00000264389) - c.858G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs780387126 | 286 | M>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.95) Somatic: No Accession: NC_000004.12:g.83063217T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063217T>A Locations: - p.Met286Lys (Ensembl:ENST00000264389) - c.857T>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs140152209 | 286 | M>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000004.12:g.83063216A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063216A>C Locations: - p.Met286Leu (Ensembl:ENST00000264389) - c.856A>C (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs1364253829 | 288 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.83063223A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063223A>G Locations: - p.His288Arg (Ensembl:ENST00000264389) - c.863A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 291 | A>S | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.83063225_83063226insA Consequence type: frameshift Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063225_83063226insA Locations: - c.870dup (NCI-TCGA:ENST00000264389) - p.A291Sfs*5 (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1425707752 | 292 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000004.12:g.83063234A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063234A>G Locations: - p.Thr292Ala (Ensembl:ENST00000264389) - c.874A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1441796944 | 292 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000004.12:g.83063235C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063235C>T Locations: - p.Thr292Ile (Ensembl:ENST00000264389) - c.875C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1441796944 | 292 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000004.12:g.83063235C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83063235C>G Locations: - p.Thr292Ser (Ensembl:ENST00000264389) - c.875C>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316945 | 294 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063241C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063241C>T Locations: - p.Ala294Val (cosmic curated:ENST00000264389) - c.881C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314900 | 295 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83063243G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83063243G>C Locations: - p.Asp295His (cosmic curated:ENST00000264389) - c.883G>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018684 | 297 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000004.12:g.83066441C>G Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066441C>G Locations: - p.S297C (NCI-TCGA:ENST00000264389) - p.Ser297Cys (cosmic curated:ENST00000264389) - c.890C>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs866785729 | 297 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000004.12:g.83066441C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066441C>T Locations: - p.Ser297Phe (Ensembl:ENST00000264389) - c.890C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1489796707 | 298 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83066443A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066443A>T Locations: - p.Ser298Cys (Ensembl:ENST00000264389) - c.892A>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731295040 | 298 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.83066444G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066444G>A Locations: - p.Ser298Asn (Ensembl:ENST00000264389) - c.893G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1448407909 | 304 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.83066461G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066461G>A Locations: - p.Val304Ile (Ensembl:ENST00000264389) - c.910G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018560 | 305 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000004.12:g.83066464A>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066464A>T Locations: - p.I305F (NCI-TCGA:ENST00000264389) - p.Ile305Phe (cosmic curated:ENST00000264389) - c.913A>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314807 | 308 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83066475T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83066475T>G Locations: - p.Asn308Lys (cosmic curated:ENST00000264389) - c.924T>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314047 | 311 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83066483C>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066483C>T Locations: - p.S311F (NCI-TCGA:ENST00000264389) - p.Ser311Phe (cosmic curated:ENST00000264389) - c.932C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1187146288 | 314 | K>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83066492A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066492A>T Locations: - p.Lys314Ile (Ensembl:ENST00000264389) - c.941A>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731296479 | 315 | L>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83066495T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066495T>C Locations: - p.Leu315Ser (Ensembl:ENST00000264389) - c.944T>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1394925377 | 316 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83066498A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066498A>G Locations: - p.Tyr316Cys (Ensembl:ENST00000264389) - c.947A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018413 | 317 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.272) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000004.12:g.83066500A>G Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066500A>G Locations: - p.N317D (NCI-TCGA:ENST00000264389) - p.Asn317Asp (cosmic curated:ENST00000264389) - c.949A>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs759888167 | 319 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83066507T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066507T>C Locations: - p.Ile319Thr (Ensembl:ENST00000264389) - c.956T>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1460740460 | 319 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000004.12:g.83066506A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066506A>G Locations: - p.Ile319Val (Ensembl:ENST00000264389) - c.955A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313588 rs141885793 | 322 | E>K | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000004.12:g.83066515G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066515G>A Locations: - p.Glu322Lys (Ensembl:ENST00000264389) - c.964G>A (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs141885793 | 322 | E>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000004.12:g.83066515G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066515G>C Locations: - p.Glu322Gln (Ensembl:ENST00000264389) - c.964G>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 323 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.83066518G>T Consequence type: stop gained Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066518G>T Locations: - c.967G>T (NCI-TCGA:ENST00000264389) - p.E323* (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100018297 | 324 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83066521C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83066521C>A Locations: - p.Leu324Ile (cosmic curated:ENST00000264389) - c.970C>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731297976 | 326 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000004.12:g.83066527G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066527G>A Locations: - p.Ala326Thr (Ensembl:ENST00000264389) - c.976G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316523 | 327 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83066530C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83066530C>T Locations: - p.Leu327Phe (cosmic curated:ENST00000264389) - c.979C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52317062 | 328 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83066533T>G Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066533T>G Locations: - p.L328V (NCI-TCGA:ENST00000264389) - p.Leu328Val (cosmic curated:ENST00000264389) - c.982T>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018844 | 329 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000004.12:g.83066537A>C Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066537A>C Locations: - p.E329A (NCI-TCGA:ENST00000264389) - p.Glu329Ala (cosmic curated:ENST00000264389) - c.986A>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731298147 | 329 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000004.12:g.83066537A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066537A>G Locations: - p.Glu329Gly (Ensembl:ENST00000264389) - c.986A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731298222 | 330 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000004.12:g.83066539A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066539A>G Locations: - p.Ile330Val (Ensembl:ENST00000264389) - c.988A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 331 | P>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.83066541del Consequence type: frameshift Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066541del Locations: - c.992del (NCI-TCGA:ENST00000264389) - p.P331Lfs*8 (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52317492 rs1429201037 | 332 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.27) - SIFT: tolerated (0.07) - PolyPhen: benign (0.278) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83066546C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83066546C>T Locations: - p.A332V (NCI-TCGA:ENST00000264389) - p.Ala332Val (Ensembl:ENST00000264389) - c.995C>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV105088969 | 336 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83068441G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83068441G>T Locations: - p.Glu336Ter (cosmic curated:ENST00000264389) - c.1006G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316897 | 336 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.83068443A>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068443A>T Locations: - p.E336D (NCI-TCGA:ENST00000264389) - p.Glu336Asp (cosmic curated:ENST00000264389) - c.1008A>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314756 | 337 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000004.12:g.83068446G>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068446G>T Locations: - p.K337N (NCI-TCGA:ENST00000264389) - p.Lys337Asn (cosmic curated:ENST00000264389) - c.1011G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316399 | 340 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83068454C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83068454C>T Locations: - p.Ser340Phe (cosmic curated:ENST00000264389) - c.1019C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV108052677 | 341 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83068456C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83068456C>A Locations: - p.Gln341Lys (cosmic curated:ENST00000264389) - c.1021C>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52318183 | 341 | Q>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83068457A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83068457A>C Locations: - p.Gln341Pro (cosmic curated:ENST00000264389) - c.1022A>C (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 345 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83068468G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068468G>A Locations: - c.1033G>A (NCI-TCGA:ENST00000264389) - p.E345K (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 346 | G>D | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.83068469del Consequence type: frameshift Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068469del Locations: - c.1035del (NCI-TCGA:ENST00000264389) - p.G346Dfs*3 (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV105860666 rs769306260 | 347 | R>C | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83068474C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068474C>T Locations: - p.Arg347Cys (Ensembl:ENST00000264389) - c.1039C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52313825 rs1334684590 | 347 | R>H | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.83068475G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068475G>A Locations: - p.Arg347His (Ensembl:ENST00000264389) - c.1040G>A (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs763829623 | 349 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000004.12:g.83068481A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068481A>G Locations: - p.Asn349Ser (Ensembl:ENST00000264389) - c.1046A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs575038953 | 353 | D>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83068494C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068494C>A Locations: - p.Asp353Glu (Ensembl:ENST00000264389) - c.1059C>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV108052668 | 354 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83068497G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83068497G>T Locations: - p.Gln354His (cosmic curated:ENST00000264389) - c.1062G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1158364713 | 357 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.83068505G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068505G>A Locations: - p.Gly357Glu (Ensembl:ENST00000264389) - c.1070G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1430546458 | 358 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.83068509A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068509A>G Locations: - p.Ile358Met (Ensembl:ENST00000264389) - c.1074A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1471258813 | 360 | H>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83068513C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068513C>G Locations: - p.His360Asp (Ensembl:ENST00000264389) - c.1078C>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52315919 | 360 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83068513C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83068513C>T Locations: - p.His360Tyr (cosmic curated:ENST00000264389) - c.1078C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52315670 | 362 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83068520A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83068520A>G Locations: - p.Glu362Gly (cosmic curated:ENST00000264389) - c.1085A>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018556 | 362 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000004.12:g.83068519G>A Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068519G>A Locations: - p.E362K (NCI-TCGA:ENST00000264389) - p.Glu362Lys (cosmic curated:ENST00000264389) - c.1084G>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs766979547 | 363 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.496) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.83068522A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83068522A>C Locations: - p.Thr363Pro (Ensembl:ENST00000264389) - c.1087A>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316310 | 364 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83075299C>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075299C>T Locations: - p.R364* (NCI-TCGA:ENST00000264389) - p.Arg364Ter (cosmic curated:ENST00000264389) - c.1090C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs781739396 | 364 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000004.12:g.83075300G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075300G>A Locations: - p.Arg364Gln (Ensembl:ENST00000264389) - c.1091G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52315659 rs751003224 rs751003224,COSV52315659 | 369 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.16) - PolyPhen: benign (0.009) - SIFT: tolerated (0.13) Somatic: Yes Population frequencies: - MAF: 0.00001196 (gnomAD) Accession: NC_000004.12:g.83075315C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075315C>T Locations: - p.T369M (NCI-TCGA:ENST00000264389) - p.Thr369Met (Ensembl:ENST00000264389) - c.1106C>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
COSV52316653 | 370 | W>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83075319G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83075319G>T Locations: - p.Trp370Cys (cosmic curated:ENST00000264389) - c.1110G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018383 | 370 | W>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83075318G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83075318G>T Locations: - p.Trp370Leu (cosmic curated:ENST00000264389) - c.1109G>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731546308 | 371 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83075320G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075320G>C Locations: - p.Asp371His (Ensembl:ENST00000264389) - c.1111G>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 373 | Q>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.83075327del Consequence type: frameshift Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075327del Locations: - c.1118del (NCI-TCGA:ENST00000264389) - p.Q373Rfs*9 (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1731546447 | 374 | I>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83075330T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075330T>A Locations: - p.Ile374Asn (Ensembl:ENST00000264389) - c.1121T>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV104579114 | 376 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83075336C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83075336C>T Locations: - p.Ser376Leu (cosmic curated:ENST00000264389) - c.1127C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314398 | 376 | S>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83075335T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83075335T>A Locations: - p.Ser376Thr (cosmic curated:ENST00000264389) - c.1126T>A (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018590 | 380 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.27) Somatic: Yes Accession: NC_000004.12:g.83075349A>T Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075349A>T Locations: - p.Q380H (NCI-TCGA:ENST00000264389) - p.Gln380His (cosmic curated:ENST00000264389) - c.1140A>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1449987271 | 383 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000004.12:g.83075358C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075358C>A Locations: - p.Asn383Lys (Ensembl:ENST00000264389) - c.1149C>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs901607194 | 389 | S>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000004.12:g.83075375G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075375G>C Locations: - p.Ser389Thr (Ensembl:ENST00000264389) - c.1166G>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731546948 | 391 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000004.12:g.83075381C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075381C>T Locations: - p.Thr391Ile (Ensembl:ENST00000264389) - c.1172C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV100018381 | 392 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.47) Somatic: Yes Accession: NC_000004.12:g.83075384C>G Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075384C>G Locations: - p.A392G (NCI-TCGA:ENST00000264389) - p.Ala392Gly (cosmic curated:ENST00000264389) - c.1175C>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52316278 | 393 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83075387C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83075387C>T Locations: - p.Pro393Leu (cosmic curated:ENST00000264389) - c.1178C>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1009698267 | 394 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.83075389G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075389G>A Locations: - p.Glu394Lys (Ensembl:ENST00000264389) - c.1180G>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731547160 | 395 | W>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.83075392T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075392T>G Locations: - p.Trp395Gly (Ensembl:ENST00000264389) - c.1183T>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1311640271 | 396 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000004.12:g.83075395A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075395A>G Locations: - p.Thr396Ala (Ensembl:ENST00000264389) - c.1186A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs749491976 | 396 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000004.12:g.83075396C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075396C>T Locations: - p.Thr396Ile (Ensembl:ENST00000264389) - c.1187C>T (Ensembl:ENST00000264389) Source type: large scale study | |||||||
rs778751754 | 397 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.83075398G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075398G>C Locations: - p.Ala397Pro (Ensembl:ENST00000264389) - c.1189G>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs778751754 | 397 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000004.12:g.83075398G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075398G>T Locations: - p.Ala397Ser (Ensembl:ENST00000264389) - c.1189G>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs527386855 | 398 | Q>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.83075401C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075401C>G Locations: - p.Gln398Glu (Ensembl:ENST00000264389) - c.1192C>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs527386855 | 398 | Q>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.83075401C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075401C>A Locations: - p.Gln398Lys (Ensembl:ENST00000264389) - c.1192C>A (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs771857909 | 400 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000004.12:g.83075407A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075407A>G Locations: - p.Met400Val (Ensembl:ENST00000264389) - c.1198A>G (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314876 | 401 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83075411A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83075411A>G Locations: - p.Glu401Gly (cosmic curated:ENST00000264389) - c.1202A>G (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
COSV52314184 | 401 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.83075411A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.83075411A>T Locations: - p.Glu401Val (cosmic curated:ENST00000264389) - c.1202A>T (cosmic curated:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1731547728 | 402 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000004.12:g.83075414C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075414C>T Locations: - p.Ala402Val (Ensembl:ENST00000264389) - c.1205C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1460073292 | 404 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000004.12:g.83075420T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075420T>C Locations: - p.Met404Thr (Ensembl:ENST00000264389) - c.1211T>C (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
rs1217812616 | 405 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000004.12:g.83075423C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075423C>T Locations: - p.Ala405Val (Ensembl:ENST00000264389) - c.1214C>T (Ensembl:ENST00000264389) Source type: large scale study Cross-references: | |||||||
TCGA novel | 407 | *>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop lost Somatic: No Accession: NC_000004.12:g.83075429G>T Consequence type: stop lost Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075429G>T Locations: - c.1220G>T (NCI-TCGA:ENST00000264389) - p.*407Lext*9 (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52317290 | 407 | *>W | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop lost Somatic: Yes Accession: NC_000004.12:g.83075430A>G Consequence type: stop lost Cytogenetic band: 4q21.22 Genomic location: NC_000004.12:g.83075430A>G Locations: - c.1221A>G (NCI-TCGA:ENST00000264389) - p.*407Wext*9 (NCI-TCGA:ENST00000264389) Source type: large scale study Cross-references: |