Q9NX63 · MIC19_HUMAN
- ProteinMICOS complex subunit MIC19
- GeneCHCHD3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids227 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs751466753 | 2 | G>C | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081934C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081934C>A Locations: - p.Gly2Cys (Ensembl:ENST00000262570) - c.4G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1815186389 | 3 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000007.14:g.133081930C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081930C>G Locations: - p.Gly3Ala (Ensembl:ENST00000262570) - c.8G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV99366834 | 4 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: Yes Accession: NC_000007.14:g.133081928T>C Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081928T>C Locations: - c.10A>G (NCI-TCGA:ENST00000262570) - p.T4A (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52774043 rs899893528 | 4 | T>I | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000007.14:g.133081927G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081927G>A Locations: - p.Thr4Ile (Ensembl:ENST00000262570) - c.11C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs867347353 | 5 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.133081924G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081924G>A Locations: - p.Thr5Ile (Ensembl:ENST00000262570) - c.14C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs867347353 | 5 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.133081924G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081924G>T Locations: - p.Thr5Asn (Ensembl:ENST00000262570) - c.14C>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1278996644 | 6 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133081922T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081922T>C Locations: - p.Ser6Gly (Ensembl:ENST00000262570) - c.16A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1039681130 | 6 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081920G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081920G>C Locations: - p.Ser6Arg (Ensembl:ENST00000262570) - c.18C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1278996644 | 6 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081922T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081922T>G Locations: - p.Ser6Arg (Ensembl:ENST00000262570) - c.16A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
TCGA novel | 7 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133081919T>C Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081919T>C Locations: - c.19A>G (NCI-TCGA:ENST00000262570) - p.T7A (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs763968000 | 7 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.133081918G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081918G>A Locations: - p.Thr7Ile (Ensembl:ENST00000262570) - c.20C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs763968000 | 7 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.133081918G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081918G>C Locations: - p.Thr7Ser (Ensembl:ENST00000262570) - c.20C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1433287036 | 8 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081916G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081916G>A Locations: - p.Arg8Cys (Ensembl:ENST00000262570) - c.22C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1294891072 | 8 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.133081915C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081915C>T Locations: - p.Arg8His (Ensembl:ENST00000262570) - c.23G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1297704709 | 9 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081912C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081912C>A Locations: - p.Arg9Leu (Ensembl:ENST00000262570) - c.26G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1326779092 | 9 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133081913G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081913G>A Locations: - p.Arg9Trp (Ensembl:ENST00000262570) - c.25C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52781809 rs1815185023 | 10 | V>I | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000007.14:g.133081910C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081910C>T Locations: - p.Val10Ile (Ensembl:ENST00000262570) - c.28G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs762774515 | 11 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.791) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081906G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081906G>A Locations: - p.Thr11Ile (Ensembl:ENST00000262570) - c.32C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs762774515 | 11 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081906G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081906G>T Locations: - p.Thr11Asn (Ensembl:ENST00000262570) - c.32C>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1000190461 | 12 | F>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081903A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081903A>C Locations: - p.Phe12Cys (Ensembl:ENST00000262570) - c.35T>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1436611846 | 12 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.133081902G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081902G>C Locations: - p.Phe12Leu (Ensembl:ENST00000262570) - c.36C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1000190461 | 12 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081903A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081903A>G Locations: - p.Phe12Ser (Ensembl:ENST00000262570) - c.35T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1815184470 | 13 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.133081900T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081900T>C Locations: - p.Glu13Gly (Ensembl:ENST00000262570) - c.38A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1815183871 | 15 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081893G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081893G>C Locations: - p.Asp15Glu (Ensembl:ENST00000262570) - c.45C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs866971329 | 16 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.133081892C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081892C>A Locations: - p.Glu16Ter (Ensembl:ENST00000262570) - c.46G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs867602201 | 16 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.133081890C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081890C>A Locations: - p.Glu16Asp (Ensembl:ENST00000262570) - c.48G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs866971329 | 16 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133081892C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081892C>T Locations: - p.Glu16Lys (Ensembl:ENST00000262570) - c.46G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1475974035 | 17 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133081888T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081888T>C Locations: - p.Asn17Ser (Ensembl:ENST00000262570) - c.50A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1375128221 | 19 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133081882T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081882T>C Locations: - p.Asn19Ser (Ensembl:ENST00000262570) - c.56A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs766580003 | 20 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.133081880T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081880T>C Locations: - p.Ile20Val (Ensembl:ENST00000262570) - c.58A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52785216 rs904523539 | 21 | T>I | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000007.14:g.133081876G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081876G>A Locations: - p.Thr21Ile (Ensembl:ENST00000262570) - c.62C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs760690628 | 22 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133081874C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081874C>G Locations: - p.Val22Leu (Ensembl:ENST00000262570) - c.64G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs760690628 | 22 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133081874C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081874C>T Locations: - p.Val22Met (Ensembl:ENST00000262570) - c.64G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1272096924 | 23 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133081871C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081871C>T Locations: - p.Val23Met (Ensembl:ENST00000262570) - c.67G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1194857929 | 24 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.133081868T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081868T>G Locations: - p.Lys24Gln (Ensembl:ENST00000262570) - c.70A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1815182595 | 24 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.133081867T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081867T>C Locations: - p.Lys24Arg (Ensembl:ENST00000262570) - c.71A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1319018809 | 25 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.608) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133081864C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081864C>T Locations: - p.Gly25Asp (Ensembl:ENST00000262570) - c.74G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1815182385 | 26 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133081861A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081861A>G Locations: - p.Ile26Thr (Ensembl:ENST00000262570) - c.77T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs531200554 | 27 | R>Q | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.133081858C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081858C>T Locations: - p.Arg27Gln (Ensembl:ENST00000262570) - c.80G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1201090455 | 27 | R>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133081859G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133081859G>A Locations: - p.Arg27Trp (Ensembl:ENST00000262570) - c.79C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1814780760 | 29 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133070226A>C Codon: TCG/GCG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070226A>C Locations: - p.Ser29Ala (Ensembl:ENST00000262570) - c.85T>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52769517 rs774870383 | 29 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.08) - PolyPhen: benign (0.071) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.00001204 (gnomAD) Accession: NC_000007.14:g.133070225G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070225G>A Locations: - p.S29L (NCI-TCGA:ENST00000262570) - p.Ser29Leu (Ensembl:ENST00000262570) - c.86C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
COSV99365987 rs763277412 | 30 | E>K | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.133070223C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070223C>T Locations: - p.Glu30Lys (Ensembl:ENST00000262570) - c.88G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1814780244 | 31 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.133070220T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070220T>C Locations: - p.Asn31Asp (Ensembl:ENST00000262570) - c.91A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1814779844 | 34 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.133070209A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070209A>C Locations: - p.Asp34Glu (Ensembl:ENST00000262570) - c.102T>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1486864155 | 34 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.133070210T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070210T>C Locations: - p.Asp34Gly (Ensembl:ENST00000262570) - c.101A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs149515031 | 34 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000007.14:g.133070211C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070211C>T Locations: - p.Asp34Asn (Ensembl:ENST00000262570) - c.100G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs2117538857 | 35 | R>* | 1000Genomes | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.133070208G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070208G>A Locations: - p.Arg35Ter (Ensembl:ENST00000262570) - c.103C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs953388125 | 35 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.133070207C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070207C>A Locations: - p.Arg35Leu (Ensembl:ENST00000262570) - c.104G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs953388125 | 35 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133070207C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070207C>G Locations: - p.Arg35Pro (Ensembl:ENST00000262570) - c.104G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs953388125 | 35 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133070207C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070207C>T Locations: - p.Arg35Gln (Ensembl:ENST00000262570) - c.104G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs2117538825 | 36 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133070203C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070203C>A Locations: - p.Met36Ile (Ensembl:ENST00000262570) - c.108G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1584686502 | 36 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133070205T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070205T>C Locations: - p.Met36Val (Ensembl:ENST00000262570) - c.106A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1814779419 | 37 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000007.14:g.133070201T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070201T>C Locations: - p.Lys37Arg (Ensembl:ENST00000262570) - c.110A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs769397623 | 38 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133070198T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070198T>C Locations: - p.Glu38Gly (Ensembl:ENST00000262570) - c.113A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs780933449 | 39 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.77) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133070195G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070195G>A Locations: - p.Ser39Phe (Ensembl:ENST00000262570) - c.116C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs780933449 | 39 | S>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.77) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133070195G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070195G>T Locations: - p.Ser39Tyr (Ensembl:ENST00000262570) - c.116C>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs770565570 | 40 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.133070192G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070192G>C Locations: - p.Ser40Cys (Ensembl:ENST00000262570) - c.119C>G (Ensembl:ENST00000262570) Source type: large scale study | |||||||
COSV52775436 rs770565570 | 40 | S>F | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.133070192G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070192G>A Locations: - p.Ser40Phe (Ensembl:ENST00000262570) - c.119C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV99365791 | 41 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000007.14:g.133070190G>A Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070190G>A Locations: - c.121C>T (NCI-TCGA:ENST00000262570) - p.P41S (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1814778736 | 42 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000007.14:g.133070187A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070187A>G Locations: - p.Ser42Pro (Ensembl:ENST00000262570) - c.124T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs777872331 | 44 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.133070180G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070180G>A Locations: - p.Ser44Leu (Ensembl:ENST00000262570) - c.131C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs777872331 | 44 | S>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133070180G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070180G>C Locations: - p.Ser44Trp (Ensembl:ENST00000262570) - c.131C>G (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1410251985 | 45 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000007.14:g.133070177T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070177T>C Locations: - p.Lys45Arg (Ensembl:ENST00000262570) - c.134A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1410251985 | 45 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.133070177T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070177T>G Locations: - p.Lys45Thr (Ensembl:ENST00000262570) - c.134A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1029688422 | 46 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.133070175A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070175A>G Locations: - p.Ser46Pro (Ensembl:ENST00000262570) - c.136T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs555810472 | 48 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.133070168C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070168C>A Locations: - p.Arg48Leu (Ensembl:ENST00000262570) - c.143G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs555810472 | 48 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000007.14:g.133070168C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070168C>T Locations: - p.Arg48Gln (Ensembl:ENST00000262570) - c.143G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1253391558 | 48 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.133070169G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070169G>A Locations: - p.Arg48Trp (Ensembl:ENST00000262570) - c.142C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1814777824 | 49 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.62) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.133070165T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070165T>C Locations: - p.Tyr49Cys (Ensembl:ENST00000262570) - c.146A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1814777922 | 49 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.133070166A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070166A>G Locations: - p.Tyr49His (Ensembl:ENST00000262570) - c.145T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52777166 | 50 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000007.14:g.133070162G>A Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070162G>A Locations: - c.149C>T (NCI-TCGA:ENST00000262570) - p.S50F (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1436381498 | 50 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.133070163A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070163A>G Locations: - p.Ser50Pro (Ensembl:ENST00000262570) - c.148T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs778758135 | 52 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000007.14:g.133070157C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070157C>G Locations: - p.Ala52Pro (Ensembl:ENST00000262570) - c.154G>C (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs778758135 | 52 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.133070157C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070157C>T Locations: - p.Ala52Thr (Ensembl:ENST00000262570) - c.154G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs150606225 | 52 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.133070156G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070156G>A Locations: - p.Ala52Val (Ensembl:ENST00000262570) - c.155C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1428533196 | 53 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.729) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.133070153T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070153T>C Locations: - p.Tyr53Cys (Ensembl:ENST00000262570) - c.158A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1352902921 | 55 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.326) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.133070147G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070147G>T Locations: - p.Ala55Asp (Ensembl:ENST00000262570) - c.164C>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV99366670 | 56 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000007.14:g.133070144G>C Consequence type: stop gained Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070144G>C Locations: - c.167C>G (NCI-TCGA:ENST00000262570) - p.S56* (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1814776739 | 57 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.838) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133070142C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133070142C>T Locations: - p.Val57Ile (Ensembl:ENST00000262570) - c.169G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs769546545 | 59 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.133024620A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024620A>C Locations: - p.Asp59Glu (Ensembl:ENST00000262570) - c.177T>G (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1484304400 | 59 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.133024621T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024621T>A Locations: - p.Asp59Val (Ensembl:ENST00000262570) - c.176A>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1813284075 | 60 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133024619C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024619C>T Locations: - p.Glu60Lys (Ensembl:ENST00000262570) - c.178G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV99366252 | 61 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000007.14:g.133024616C>A Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024616C>A Locations: - c.181G>T (NCI-TCGA:ENST00000262570) - p.E61* (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1368504503 | 62 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133024613A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024613A>C Locations: - p.Leu62Val (Ensembl:ENST00000262570) - c.184T>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1261598071 | 63 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.133024610T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024610T>G Locations: - p.Lys63Gln (Ensembl:ENST00000262570) - c.187A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs745407361 | 64 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.559) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002785 (gnomAD) Accession: NC_000007.14:g.133024606C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024606C>A Locations: - p.R64I (NCI-TCGA:ENST00000262570) - p.Arg64Ile (Ensembl:ENST00000262570) - c.191G>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1448231081 | 65 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133024604T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024604T>C Locations: - p.Arg65Gly (Ensembl:ENST00000262570) - c.193A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1387285011 | 65 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000007.14:g.133024603C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024603C>T Locations: - p.Arg65Lys (Ensembl:ENST00000262570) - c.194G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52774876 | 65 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000007.14:g.133024602T>A Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024602T>A Locations: - c.195A>T (NCI-TCGA:ENST00000262570) - p.R65S (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1813282970 | 67 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.537) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133024597G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024597G>A Locations: - p.Ala67Val (Ensembl:ENST00000262570) - c.200C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1463923243 | 68 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.133024593C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024593C>A Locations: - p.Glu68Asp (Ensembl:ENST00000262570) - c.204G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs776272933 | 68 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133024594T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024594T>C Locations: - p.Glu68Gly (Ensembl:ENST00000262570) - c.203A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs771048200 | 69 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.133024592C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024592C>T Locations: - p.Glu69Lys (Ensembl:ENST00000262570) - c.205G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
COSV52774325 COSV52774325,COSV99367064 COSV99367064 | 71 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000007.14:g.133024586C>T Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024586C>T Locations: - c.211G>A (NCI-TCGA:ENST00000262570) - p.A71T (NCI-TCGA:ENST00000262570) Source type: large scale study | |||||||
rs1433321933 | 73 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.133024580C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024580C>T Locations: - p.Glu73Lys (Ensembl:ENST00000262570) - c.217G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
TCGA novel | 75 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.583) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.133024573G>C Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024573G>C Locations: - c.224C>G (NCI-TCGA:ENST00000262570) - p.A75G (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 75 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.58) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.133024574C>T Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024574C>T Locations: - c.223G>A (NCI-TCGA:ENST00000262570) - p.A75T (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 76 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.133024569C>A Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024569C>A Locations: - c.228G>T (NCI-TCGA:ENST00000262570) - p.K76N (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1174986242 | 76 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000007.14:g.133024570T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024570T>C Locations: - p.Lys76Arg (Ensembl:ENST00000262570) - c.227A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52771293 | 78 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000007.14:g.133024565C>A Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024565C>A Locations: - c.232G>T (NCI-TCGA:ENST00000262570) - p.E78* (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52771293 | 78 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.345) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000007.14:g.133024565C>T Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024565C>T Locations: - c.232G>A (NCI-TCGA:ENST00000262570) - p.E78K (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1813280414 | 80 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.133024557T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024557T>A Locations: - p.Glu80Asp (Ensembl:ENST00000262570) - c.240A>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs141904142 | 80 | E>K | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.133024559C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024559C>T Locations: - p.Glu80Lys (Ensembl:ENST00000262570) - c.238G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52774338 | 81 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: Yes Accession: NC_000007.14:g.133024556C>T Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024556C>T Locations: - c.241G>A (NCI-TCGA:ENST00000262570) - p.D81N (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52771670 | 82 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000007.14:g.133024553G>C Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024553G>C Locations: - c.244C>G (NCI-TCGA:ENST00000262570) - p.Q82E (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1435445378 | 82 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.133024552T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024552T>C Locations: - p.Gln82Arg (Ensembl:ENST00000262570) - c.245A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1584651967 | 83 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.133024550T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024550T>G Locations: - p.Lys83Gln (Ensembl:ENST00000262570) - c.247A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs889393988 | 84 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.133024547G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024547G>A Locations: - p.Arg84Ter (Ensembl:ENST00000262570) - c.250C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs780297012 | 84 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.133024546C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.133024546C>T Locations: - p.Arg84Gln (Ensembl:ENST00000262570) - c.251G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1811734448 | 85 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.132975284A>C Codon: CTA/CGA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975284A>C Locations: - p.Leu85Arg (Ensembl:ENST00000262570) - c.254T>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1440052609 | 86 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.132975282T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975282T>G Locations: - p.Lys86Gln (Ensembl:ENST00000262570) - c.256A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs148121452 | 87 | Q>E | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000007.14:g.132975279G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975279G>C Locations: - p.Gln87Glu (Ensembl:ENST00000262570) - c.259C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1430627605 | 87 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.132975278T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975278T>C Locations: - p.Gln87Arg (Ensembl:ENST00000262570) - c.260A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1811733997 | 89 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.178) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132975273T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975273T>C Locations: - p.Lys89Glu (Ensembl:ENST00000262570) - c.265A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1811733904 | 89 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.315) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132975271T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975271T>A Locations: - p.Lys89Asn (Ensembl:ENST00000262570) - c.267A>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV99366560 | 90 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000007.14:g.132975270C>A Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975270C>A Locations: - c.268G>T (NCI-TCGA:ENST00000262570) - p.E90* (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1191667092 | 90 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000007.14:g.132975268C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975268C>A Locations: - p.Glu90Asp (Ensembl:ENST00000262570) - c.270G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs962066376 | 91 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132975267G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975267G>T Locations: - p.Leu91Met (Ensembl:ENST00000262570) - c.271C>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1811733634 | 92 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.756) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132975264C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975264C>G Locations: - p.Asp92His (Ensembl:ENST00000262570) - c.274G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1450897448 | 93 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.132975261G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975261G>A Locations: - p.Arg93Ter (Ensembl:ENST00000262570) - c.277C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1290701858 | 93 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.132975260C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975260C>T Locations: - p.Arg93Gln (Ensembl:ENST00000262570) - c.278G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1389661346 | 94 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.694) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.132975258C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975258C>G Locations: - p.Glu94Gln (Ensembl:ENST00000262570) - c.280G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1811733123 | 95 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.132975254C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975254C>T Locations: - p.Arg95Lys (Ensembl:ENST00000262570) - c.284G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1348855030 | 95 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132975253C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975253C>A Locations: - p.Arg95Ser (Ensembl:ENST00000262570) - c.285G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1811733123 | 95 | R>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.812) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132975254C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975254C>G Locations: - p.Arg95Thr (Ensembl:ENST00000262570) - c.284G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs757384725 | 96 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.132975252C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975252C>T Locations: - p.Ala96Thr (Ensembl:ENST00000262570) - c.286G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs764697418 | 97 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.756) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132975249C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975249C>G Locations: - p.Ala97Pro (Ensembl:ENST00000262570) - c.289G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs764697418 | 97 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.132975249C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975249C>A Locations: - p.Ala97Ser (Ensembl:ENST00000262570) - c.289G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs758825605 | 99 | N>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132975242T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975242T>A Locations: - p.Asn99Ile (Ensembl:ENST00000262570) - c.296A>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs753167569 | 101 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.132975236T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975236T>G Locations: - p.Gln101Pro (Ensembl:ENST00000262570) - c.302A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs753167569 | 101 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.132975236T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975236T>C Locations: - p.Gln101Arg (Ensembl:ENST00000262570) - c.302A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1264838566 | 104 | R>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132975227C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975227C>A Locations: - p.Arg104Ile (Ensembl:ENST00000262570) - c.311G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1264838566 | 104 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.132975227C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975227C>T Locations: - p.Arg104Lys (Ensembl:ENST00000262570) - c.311G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1208814866 | 105 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.697) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.132975225C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975225C>T Locations: - p.Ala105Thr (Ensembl:ENST00000262570) - c.313G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs759910946 | 108 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132975215C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975215C>G Locations: - p.Arg108Pro (Ensembl:ENST00000262570) - c.323G>C (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs759910946 | 108 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.132975215C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975215C>T Locations: - p.Arg108Gln (Ensembl:ENST00000262570) - c.323G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
COSV52784925 rs952885775 | 108 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.886) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000007.14:g.132975216G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975216G>A Locations: - p.R108W (NCI-TCGA:ENST00000262570) - p.Arg108Trp (Ensembl:ENST00000262570) - c.322C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs765898154 | 109 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132975212T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975212T>C Locations: - p.Glu109Gly (Ensembl:ENST00000262570) - c.326A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1250884382 | 109 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132975213C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975213C>T Locations: - p.Glu109Lys (Ensembl:ENST00000262570) - c.325G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs760273913 | 110 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.539) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.132975209C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975209C>T Locations: - p.Arg110Lys (Ensembl:ENST00000262570) - c.329G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1811731004 | 110 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132975208C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975208C>A Locations: - p.Arg110Ser (Ensembl:ENST00000262570) - c.330G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1811730908 | 111 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.132975207T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975207T>A Locations: - p.Ile111Leu (Ensembl:ENST00000262570) - c.331A>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs772593229 | 111 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.132975205T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975205T>C Locations: - p.Ile111Met (Ensembl:ENST00000262570) - c.333A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1202378677 | 112 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132975204A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975204A>G Locations: - p.Cys112Arg (Ensembl:ENST00000262570) - c.334T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs964047912 | 112 | C>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.132975203C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975203C>G Locations: - p.Cys112Ser (Ensembl:ENST00000262570) - c.335G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs964047912 | 112 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132975203C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975203C>T Locations: - p.Cys112Tyr (Ensembl:ENST00000262570) - c.335G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1811730376 | 113 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132975201T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975201T>C Locations: - p.Ser113Gly (Ensembl:ENST00000262570) - c.337A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV108064266 rs761670780 | 114 | E>K | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000007.14:g.132975198C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975198C>T Locations: - p.Glu114Lys (Ensembl:ENST00000262570) - c.340G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52774240 rs144725283 | 117 | R>C | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.132975189G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975189G>A Locations: - p.Arg117Cys (Ensembl:ENST00000262570) - c.349C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52777943 rs558477829 | 117 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious (0.04) - PolyPhen: benign (0.049) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.132975188C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975188C>T Locations: - p.R117H (NCI-TCGA:ENST00000262570) - p.Arg117His (Ensembl:ENST00000262570) - c.350G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs144725283 | 117 | R>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.132975189G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975189G>T Locations: - p.Arg117Ser (Ensembl:ENST00000262570) - c.349C>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs747176873 | 118 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.132975185G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975185G>C Locations: - p.Ala118Gly (Ensembl:ENST00000262570) - c.353C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs771024433 | 118 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000007.14:g.132975186C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975186C>A Locations: - p.Ala118Ser (Ensembl:ENST00000262570) - c.352G>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs771024433 | 118 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000007.14:g.132975186C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975186C>T Locations: - p.Ala118Thr (Ensembl:ENST00000262570) - c.352G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs866058203 | 119 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132975183T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975183T>C Locations: - p.Lys119Glu (Ensembl:ENST00000262570) - c.355A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs752648771 | 119 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000007.14:g.132975182T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975182T>C Locations: - p.Lys119Arg (Ensembl:ENST00000262570) - c.356A>G (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs752648771 | 119 | K>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.579) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.132975182T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975182T>G Locations: - p.Lys119Thr (Ensembl:ENST00000262570) - c.356A>C (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs201557228 | 120 | A>P | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132975180C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975180C>G Locations: - p.Ala120Pro (Ensembl:ENST00000262570) - c.358G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs201557228 | 120 | A>T | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.132975180C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975180C>T Locations: - p.Ala120Thr (Ensembl:ENST00000262570) - c.358G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1277097594 | 121 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132975175C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975175C>G Locations: - p.Lys121Asn (Ensembl:ENST00000262570) - c.363G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs779519924 | 122 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.32) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.132975172G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975172G>T Locations: - p.His122Gln (Ensembl:ENST00000262570) - c.366C>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1811729041 | 122 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000007.14:g.132975173T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 7q33 Genomic location: NC_000007.14:g.132975173T>C Locations: - p.His122Arg (Ensembl:ENST00000262570) - c.365A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1448922253 | 124 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132885744G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885744G>T Locations: - p.Ala124Asp (Ensembl:ENST00000262570) - c.371C>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1448922253 | 124 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.132885744G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885744G>C Locations: - p.Ala124Gly (Ensembl:ENST00000262570) - c.371C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs764081479 | 124 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132885745C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885745C>A Locations: - p.Ala124Ser (Ensembl:ENST00000262570) - c.370G>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1448922253 | 124 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.132885744G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885744G>A Locations: - p.Ala124Val (Ensembl:ENST00000262570) - c.371C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs2117175584 | 125 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132885742T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885742T>C Locations: - p.Arg125Gly (Ensembl:ENST00000262570) - c.373A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1324560220 | 125 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.132885741C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885741C>T Locations: - p.Arg125Lys (Ensembl:ENST00000262570) - c.374G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1324560220 | 125 | R>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132885741C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885741C>G Locations: - p.Arg125Thr (Ensembl:ENST00000262570) - c.374G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs373917058 | 126 | Q>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.469) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.132885739G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885739G>C Locations: - p.Gln126Glu (Ensembl:ENST00000262570) - c.376C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs759334307 | 129 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.132885728C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885728C>G Locations: - p.Glu129Asp (Ensembl:ENST00000262570) - c.387G>C (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs764943413 | 129 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.132885729T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885729T>C Locations: - p.Glu129Gly (Ensembl:ENST00000262570) - c.386A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs773327023 | 130 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132885727T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885727T>C Locations: - p.Lys130Glu (Ensembl:ENST00000262570) - c.388A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs772401857 | 131 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000007.14:g.132885722G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885722G>C Locations: - p.Asp131Glu (Ensembl:ENST00000262570) - c.393C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52770922 rs1283295660 | 132 | R>* | cosmic curated TOPMed | ||||
Consequence: missense Somatic: Yes Accession: NC_000007.14:g.132885721G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885721G>A Locations: - p.Arg132Ter (Ensembl:ENST00000262570) - c.394C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1283295660 | 132 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.132885721G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885721G>C Locations: - p.Arg132Gly (Ensembl:ENST00000262570) - c.394C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs200873719 | 132 | R>Q | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.132885720C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885720C>T Locations: - p.Arg132Gln (Ensembl:ENST00000262570) - c.395G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs774561008 | 133 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000007.14:g.132885717A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885717A>G Locations: - p.Val133Ala (Ensembl:ENST00000262570) - c.398T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs774561008 | 133 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.132885717A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885717A>C Locations: - p.Val133Gly (Ensembl:ENST00000262570) - c.398T>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs768799044 | 135 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.132885711T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885711T>C Locations: - p.Lys135Arg (Ensembl:ENST00000262570) - c.404A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs2117175501 | 136 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132885709T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885709T>G Locations: - p.Lys136Gln (Ensembl:ENST00000262570) - c.406A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1349889926 | 136 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132885708T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885708T>G Locations: - p.Lys136Thr (Ensembl:ENST00000262570) - c.407A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1190176168 | 138 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.132885701A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885701A>C Locations: - p.Asp138Glu (Ensembl:ENST00000262570) - c.414T>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs951779566 | 139 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.543) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.132885699G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885699G>T Locations: - p.Ala139Glu (Ensembl:ENST00000262570) - c.416C>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs376803690 | 140 | F>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.132885697A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885697A>G Locations: - p.Phe140Leu (Ensembl:ENST00000262570) - c.418T>C (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1214010308 | 142 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132885690T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885690T>G Locations: - p.Lys142Thr (Ensembl:ENST00000262570) - c.425A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs780572296 | 143 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132885688C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885688C>T Locations: - p.Glu143Lys (Ensembl:ENST00000262570) - c.427G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1480568454 | 144 | Q>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132885685G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885685G>T Locations: - p.Gln144Lys (Ensembl:ENST00000262570) - c.430C>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
TCGA novel | 145 | L>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000007.14:g.132885681_132885682insG Consequence type: frameshift Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885681_132885682insG Locations: - c.433dup (NCI-TCGA:ENST00000262570) - p.L145Pfs*3 (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1383344729 | 145 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132885681A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885681A>T Locations: - p.Leu145Gln (Ensembl:ENST00000262570) - c.434T>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs756460103 | 148 | L>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132885672A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885672A>C Locations: - p.Leu148Arg (Ensembl:ENST00000262570) - c.443T>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1172381399 | 149 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.132885670C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885670C>T Locations: - p.Glu149Lys (Ensembl:ENST00000262570) - c.445G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52785366 | 150 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.741) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000007.14:g.132885665C>A Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885665C>A Locations: - c.450G>T (NCI-TCGA:ENST00000262570) - p.E150D (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1585604389 | 150 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132885666T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885666T>C Locations: - p.Glu150Gly (Ensembl:ENST00000262570) - c.449A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs746224115 | 150 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132885667C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885667C>G Locations: - p.Glu150Gln (Ensembl:ENST00000262570) - c.448G>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV99365876 rs1809187756 | 151 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.132885662C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132885662C>A Locations: - p.R151S (NCI-TCGA:ENST00000262570) - p.Arg151Ser (Ensembl:ENST00000262570) - c.453G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs777362205 TCGA novel | 155 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC gnomAD NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.132838458G>C, NC_000007.14:g.132838458G>T Codon: TTC/TTG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838458G>C, NC_000007.14:g.132838458G>T Locations: - p.Phe155Leu (Ensembl:ENST00000262570) - c.465C>G (Ensembl:ENST00000262570) - c.465C>A (NCI-TCGA:ENST00000262570) - p.F155L (NCI-TCGA:ENST00000262570) Source type: large scale study | |||||||
rs2117095545 | 156 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.132838455_132838456del Codon: TACAGA/TAGA Consequence type: stop gained Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838455_132838456del Locations: - p.Tyr156Ter (Ensembl:ENST00000262570) - c.468_469del (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV107286493 rs138444161 | 157 | R>I | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.132838453C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838453C>A Locations: - p.Arg157Ile (Ensembl:ENST00000262570) - c.470G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs138444161 | 157 | R>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.132838453C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838453C>T Locations: - p.Arg157Lys (Ensembl:ENST00000262570) - c.470G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs766028406 | 159 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132838447G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838447G>T Locations: - p.Thr159Asn (Ensembl:ENST00000262570) - c.476C>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs766028406 | 159 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.132838447G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838447G>C Locations: - p.Thr159Ser (Ensembl:ENST00000262570) - c.476C>G (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1182189250 | 160 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132838444G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838444G>A Locations: - p.Thr160Ile (Ensembl:ENST00000262570) - c.479C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1393889947 | 162 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.132838439G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838439G>A Locations: - p.Gln162Ter (Ensembl:ENST00000262570) - c.484C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs372684533 | 163 | Y>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132838435T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838435T>C Locations: - p.Tyr163Cys (Ensembl:ENST00000262570) - c.488A>G (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1807848690 | 163 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132838436A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838436A>G Locations: - p.Tyr163His (Ensembl:ENST00000262570) - c.487T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1807848174 | 166 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132838426G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838426G>A Locations: - p.Ala166Val (Ensembl:ENST00000262570) - c.497C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs760507594 | 167 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132838424C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838424C>A Locations: - p.Ala167Ser (Ensembl:ENST00000262570) - c.499G>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs751855173 | 167 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.132838423G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838423G>A Locations: - p.Ala167Val (Ensembl:ENST00000262570) - c.500C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1436938237 | 169 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.749) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.132838418C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838418C>T Locations: - p.Glu169Lys (Ensembl:ENST00000262570) - c.505G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1398124448 | 170 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.474) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.132838414A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838414A>G Locations: - p.Val170Ala (Ensembl:ENST00000262570) - c.509T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV99365939 | 171 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000007.14:g.132838412C>A Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838412C>A Locations: - c.511G>T (NCI-TCGA:ENST00000262570) - p.E171* (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1807847411 | 171 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.553) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.132838412C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838412C>T Locations: - p.Glu171Lys (Ensembl:ENST00000262570) - c.511G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1375395418 | 173 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.875) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132838406T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838406T>G Locations: - p.Lys173Gln (Ensembl:ENST00000262570) - c.517A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52769080 | 173 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000007.14:g.132838405T>G Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838405T>G Locations: - c.518A>C (NCI-TCGA:ENST00000262570) - p.K173T (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs764391301 | 174 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.403) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132838401G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132838401G>C Locations: - p.Phe174Leu (Ensembl:ENST00000262570) - c.522C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV99366985 rs771680335 | 176 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000007997 (gnomAD) Accession: NC_000007.14:g.132796576G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796576G>A Locations: - p.R176* (NCI-TCGA:ENST00000262570) - p.Arg176Ter (Ensembl:ENST00000262570) - c.526C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs114154515 | 176 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796575C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796575C>A Locations: - p.Arg176Leu (Ensembl:ENST00000262570) - c.527G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52774469 rs114154515 | 176 | R>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000007.14:g.132796575C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796575C>T Locations: - p.Arg176Gln (Ensembl:ENST00000262570) - c.527G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs775347914 | 177 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132796572T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796572T>C Locations: - p.Tyr177Cys (Ensembl:ENST00000262570) - c.530A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1806621210 | 178 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.132796570C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796570C>T Locations: - p.Glu178Lys (Ensembl:ENST00000262570) - c.532G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1265411704 | 179 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000007.14:g.132796566G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796566G>A Locations: - p.Ser179Phe (Ensembl:ENST00000262570) - c.536C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1670943090 | 180 | H>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.132796563T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796563T>A Locations: - p.His180Leu (Ensembl:ENST00000262570) - c.539A>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs778391301 | 180 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000007.14:g.132796564G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796564G>A Locations: - p.His180Tyr (Ensembl:ENST00000262570) - c.538C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
COSV52771797 rs1257103583 | 181 | P>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000007.14:g.132796560G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796560G>A Locations: - p.Pro181Leu (Ensembl:ENST00000262570) - c.542C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1314448225 | 182 | V>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796557A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796557A>T Locations: - p.Val182Asp (Ensembl:ENST00000262570) - c.545T>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1294331153 COSV99365960 | 183 | C>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed gnomAD NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.132796554C>G, NC_000007.14:g.132796555A>T Codon: TGT/TCT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796554C>G, NC_000007.14:g.132796555A>T Locations: - p.Cys183Ser (Ensembl:ENST00000262570) - c.548G>C (Ensembl:ENST00000262570) - c.547T>A (NCI-TCGA:ENST00000262570) - p.C183S (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1806619997 | 184 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.132796551G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796551G>A Locations: - p.Ala184Val (Ensembl:ENST00000262570) - c.551C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs748786773 | 185 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.132796547A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796547A>T Locations: - p.Asp185Glu (Ensembl:ENST00000262570) - c.555T>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1214629959 | 185 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.132796549C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796549C>T Locations: - p.Asp185Asn (Ensembl:ENST00000262570) - c.553G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1363511421 | 185 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132796548T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796548T>A Locations: - p.Asp185Val (Ensembl:ENST00000262570) - c.554A>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV99365511 | 185 | D>Y | 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_000007.14:g.132796549C>A Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796549C>A Locations: - c.553G>T (NCI-TCGA:ENST00000262570) - p.D185Y (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1325083314 | 186 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.549) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132796546G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796546G>C Locations: - p.Leu186Val (Ensembl:ENST00000262570) - c.556C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1383185282 | 188 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.132796539G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796539G>C Locations: - p.Ala188Gly (Ensembl:ENST00000262570) - c.563C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs780183152 | 190 | I>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132796534T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796534T>A Locations: - p.Ile190Phe (Ensembl:ENST00000262570) - c.568A>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs756119546 | 191 | L>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.553) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132796531G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796531G>T Locations: - p.Leu191Ile (Ensembl:ENST00000262570) - c.571C>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
TCGA novel | 192 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.132796528G>A Consequence type: stop gained Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796528G>A Locations: - c.574C>T (NCI-TCGA:ENST00000262570) - p.Q192* (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1171454574 | 193 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796524C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796524C>T Locations: - p.Cys193Tyr (Ensembl:ENST00000262570) - c.578G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52774149 rs747561997 | 195 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.05) - PolyPhen: benign (0.003) - SIFT: deleterious (0.05) Somatic: Yes Population frequencies: - MAF: 0.00004784 (gnomAD) Accession: NC_000007.14:g.132796519G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796519G>A Locations: - p.R195C (NCI-TCGA:ENST00000262570) - p.Arg195Cys (Ensembl:ENST00000262570) - c.583C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
COSV52772437 rs145165887 | 195 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.323) - SIFT: deleterious (0.02) - PolyPhen: benign (0.318) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.00001993 (gnomAD) Accession: NC_000007.14:g.132796518C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796518C>T Locations: - p.R195H (NCI-TCGA:ENST00000262570) - p.Arg195His (Ensembl:ENST00000262570) - c.584G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
COSV52773425 COSV52773425,COSV52782995 COSV52782995 | 196 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000007.14:g.132796516C>A Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796516C>A Locations: - c.586G>T (NCI-TCGA:ENST00000262570) - p.E196* (NCI-TCGA:ENST00000262570) Source type: large scale study | |||||||
COSV52773425 COSV52773425,COSV52782995 COSV52782995 | 196 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.52) Somatic: Yes Accession: NC_000007.14:g.132796516C>G Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796516C>G Locations: - c.586G>C (NCI-TCGA:ENST00000262570) - p.E196Q (NCI-TCGA:ENST00000262570) Source type: large scale study | |||||||
rs897026270 | 197 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132796511G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796511G>T Locations: - p.Asn197Lys (Ensembl:ENST00000262570) - c.591C>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs565131518 | 197 | N>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.78) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132796512T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796512T>C Locations: - p.Asn197Ser (Ensembl:ENST00000262570) - c.590A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs11553633 | 201 | T>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796500G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796500G>A Locations: - p.Thr201Ile (Ensembl:ENST00000262570) - c.602C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs11553633 | 201 | T>N | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.882) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796500G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796500G>T Locations: - p.Thr201Asn (Ensembl:ENST00000262570) - c.602C>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs752990883 | 202 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132796498G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796498G>A Locations: - p.Leu202Phe (Ensembl:ENST00000262570) - c.604C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1177153823 | 203 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000007.14:g.132796493T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796493T>A Locations: - p.Lys203Asn (Ensembl:ENST00000262570) - c.609A>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52783512 | 204 | C>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000007.14:g.132796490G>T Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796490G>T Locations: - c.612C>A (NCI-TCGA:ENST00000262570) - p.C204* (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs866221129 | 205 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796488G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796488G>A Locations: - p.Ser205Phe (Ensembl:ENST00000262570) - c.614C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs866221129 | 205 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796488G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796488G>T Locations: - p.Ser205Tyr (Ensembl:ENST00000262570) - c.614C>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52778880 rs147544227 | 206 | A>S | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.73) Somatic: Yes Accession: NC_000007.14:g.132796486C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796486C>A Locations: - p.Ala206Ser (Ensembl:ENST00000262570) - c.616G>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
COSV99365988 rs147544227 | 206 | A>T | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.6) Somatic: Yes Accession: NC_000007.14:g.132796486C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796486C>T Locations: - p.Ala206Thr (Ensembl:ENST00000262570) - c.616G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs773642761 | 208 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796479G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796479G>C Locations: - p.Ala208Gly (Ensembl:ENST00000262570) - c.623C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1806615949 | 209 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132796476G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796476G>A Locations: - p.Thr209Ile (Ensembl:ENST00000262570) - c.626C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs890757585 | 210 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.132796474G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796474G>A Locations: - p.Gln210Ter (Ensembl:ENST00000262570) - c.628C>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs2083407073 | 210 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000007.14:g.132796473T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796473T>C Locations: - p.Gln210Arg (Ensembl:ENST00000262570) - c.629A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1317149573 | 211 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796470T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796470T>C Locations: - p.Tyr211Cys (Ensembl:ENST00000262570) - c.632A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs762036363 | 212 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.132796467A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796467A>G Locations: - p.Met212Thr (Ensembl:ENST00000262570) - c.635T>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs774103431 | 213 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796465G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796465G>A Locations: - p.His213Tyr (Ensembl:ENST00000262570) - c.637C>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs1049424076 | 216 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.132796455T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796455T>C Locations: - p.Asn216Ser (Ensembl:ENST00000262570) - c.647A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1806615224 | 217 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.132796452T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796452T>C Locations: - p.His217Arg (Ensembl:ENST00000262570) - c.650A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52771284 | 218 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.132796449G>A Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796449G>A Locations: - c.653C>T (NCI-TCGA:ENST00000262570) - p.A218V (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1806614994 | 219 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.861) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796447T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796447T>C Locations: - p.Lys219Glu (Ensembl:ENST00000262570) - c.655A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs748876744 | 219 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.132796446T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796446T>C Locations: - p.Lys219Arg (Ensembl:ENST00000262570) - c.656A>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs1654647462 | 220 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.132796444G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796444G>C Locations: - p.Gln220Glu (Ensembl:ENST00000262570) - c.658C>G (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs542659275 | 220 | Q>P | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.644) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132796443T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796443T>G Locations: - p.Gln220Pro (Ensembl:ENST00000262570) - c.659A>C (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs542659275 | 220 | Q>R | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.132796443T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132796443T>C Locations: - p.Gln220Arg (Ensembl:ENST00000262570) - c.659A>G (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs988639169 | 221 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.132785659C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132785659C>T Locations: - p.Ser221Asn (Ensembl:ENST00000262570) - c.662G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs769457001 | 221 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.132785660T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132785660T>G Locations: - p.Ser221Arg (Ensembl:ENST00000262570) - c.661A>C (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs147050556 | 221 | S>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.132785658G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132785658G>T Locations: - p.Ser221Arg (Ensembl:ENST00000262570) - c.663C>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs770740377 | 222 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.132785655C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132785655C>A Locations: - p.Met222Ile (Ensembl:ENST00000262570) - c.666G>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs776676707 | 222 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000007.14:g.132785657T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132785657T>A Locations: - p.Met222Leu (Ensembl:ENST00000262570) - c.664A>T (Ensembl:ENST00000262570) Source type: large scale study Cross-references: | |||||||
COSV52769027 | 224 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.66) Somatic: Yes Accession: NC_000007.14:g.132785651C>G Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132785651C>G Locations: - c.670G>C (NCI-TCGA:ENST00000262570) - p.E224Q (NCI-TCGA:ENST00000262570) Source type: large scale study Cross-references: | |||||||
rs746886506 | 226 | G>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.132785645C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132785645C>A Locations: - p.Gly226Ter (Ensembl:ENST00000262570) - c.676G>T (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs746886506 | 226 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132785645C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132785645C>T Locations: - p.Gly226Arg (Ensembl:ENST00000262570) - c.676G>A (Ensembl:ENST00000262570) Source type: large scale study | |||||||
rs756826972 | 227 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.132785642C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q32.3 Genomic location: NC_000007.14:g.132785642C>T Locations: - p.Gly227Arg (Ensembl:ENST00000262570) - c.679G>A (Ensembl:ENST00000262570) Source type: large scale study Cross-references: |