Q9NRP2 · COXM2_HUMAN
- ProteinCOX assembly mitochondrial protein 2 homolog
- GeneCMC2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV108053407 | 1 | M>? | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.80997392C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.80997392C>T Locations: - p.Met1? (cosmic curated:ENST00000565914) - c.3G>A (cosmic curated:ENST00000565914) - p.Met1? (cosmic curated:ENST00000564249) - c.3G>A (cosmic curated:ENST00000564249) - p.Met1? (cosmic curated:ENST00000565650) - c.3G>A (cosmic curated:ENST00000565650) Source type: large scale study Cross-references: | |||||||
rs757355621 | 2 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.80997391G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997391G>A Locations: - p.His2Tyr (Ensembl:ENST00000219400) - c.4C>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1968513333 | 3 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.775) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.80997387G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997387G>A Locations: - p.Pro3Leu (Ensembl:ENST00000219400) - c.8C>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV54728958 rs187504367 | 3 | P>S | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000016.10:g.80997388G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997388G>A Locations: - p.Pro3Ser (Ensembl:ENST00000219400) - c.7C>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1968512741 | 4 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997383G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997383G>C Locations: - p.Asp4Glu (Ensembl:ENST00000219400) - c.12C>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs776452953 | 4 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997384T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997384T>C Locations: - p.Asp4Gly (Ensembl:ENST00000219400) - c.11A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs759324905 | 4 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.80997385C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997385C>G Locations: - p.Asp4His (Ensembl:ENST00000219400) - c.10G>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs759324905 | 4 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.80997385C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997385C>T Locations: - p.Asp4Asn (Ensembl:ENST00000219400) - c.10G>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1397186673 | 5 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997382A>T Codon: TTA/ATA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997382A>T Locations: - p.Leu5Ile (Ensembl:ENST00000219400) - c.13T>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs772552477 | 6 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997378G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997378G>C Locations: - p.Ser6Cys (Ensembl:ENST00000219400) - c.17C>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs772552477 | 6 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997378G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997378G>A Locations: - p.Ser6Phe (Ensembl:ENST00000219400) - c.17C>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs760688812 | 6 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.80997379A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997379A>G Locations: - p.Ser6Pro (Ensembl:ENST00000219400) - c.16T>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs760688812 | 6 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997379A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997379A>T Locations: - p.Ser6Thr (Ensembl:ENST00000219400) - c.16T>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1010350758 | 8 | H>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997373G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997373G>C Locations: - p.His8Asp (Ensembl:ENST00000219400) - c.22C>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV108053414 | 8 | H>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.80997372T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.80997372T>A Locations: - p.His8Leu (cosmic curated:ENST00000564249) - c.23A>T (cosmic curated:ENST00000564249) - p.His8Leu (cosmic curated:ENST00000565914) - c.23A>T (cosmic curated:ENST00000565914) - p.His8Leu (cosmic curated:ENST00000565650) - c.23A>T (cosmic curated:ENST00000565650) Source type: large scale study Cross-references: | |||||||
rs200525520 | 10 | H>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.80997367G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997367G>C Locations: - p.His10Asp (Ensembl:ENST00000219400) - c.28C>G (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs1968510973 | 10 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.80997366T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997366T>G Locations: - p.His10Pro (Ensembl:ENST00000219400) - c.29A>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV54729803 | 10 | H>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.80997366T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.80997366T>C Locations: - p.His10Arg (cosmic curated:ENST00000564249) - c.29A>G (cosmic curated:ENST00000564249) - p.His10Arg (cosmic curated:ENST00000565914) - c.29A>G (cosmic curated:ENST00000565914) - p.His10Arg (cosmic curated:ENST00000565650) - c.29A>G (cosmic curated:ENST00000565650) Source type: large scale study Cross-references: | |||||||
rs774135647 | 11 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.80997364T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997364T>C Locations: - p.Thr11Ala (Ensembl:ENST00000219400) - c.31A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV99548142 rs2303217 | 11 | T>I | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.80997363G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997363G>A Locations: - p.Thr11Ile (Ensembl:ENST00000219400) - c.32C>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
VAR_033816 rs2303217 | 11 | T>S | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000016.10:g.80997363G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997363G>C Locations: - p.Thr11Ser (UniProt:Q9NRP2) Source type: mixed Cross-references: | |||||||
rs774135647 | 11 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.80997364T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997364T>A Locations: - p.Thr11Ser (Ensembl:ENST00000219400) - c.31A>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs756529549 | 13 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.80997358C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997358C>T Locations: - p.Glu13Lys (Ensembl:ENST00000219400) - c.37G>A (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs746391456 | 14 | C>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997355A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997355A>G Locations: - p.Cys14Arg (Ensembl:ENST00000219400) - c.40T>C (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs200961491 | 15 | N>I | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.80997351T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997351T>A Locations: - p.Asn15Ile (Ensembl:ENST00000219400) - c.44A>T (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs200961491 | 15 | N>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.80997351T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997351T>C Locations: - p.Asn15Ser (Ensembl:ENST00000219400) - c.44A>G (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs200961491 | 15 | N>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.80997351T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997351T>G Locations: - p.Asn15Thr (Ensembl:ENST00000219400) - c.44A>C (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs757345931 | 16 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000016.10:g.80997349C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997349C>T Locations: - p.Val16Ile (Ensembl:ENST00000219400) - c.46G>A (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs2151645967 | 17 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.241) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.80997344C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997344C>A Locations: - p.Leu17Phe (Ensembl:ENST00000219400) - c.51G>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1455786353 | 18 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.80997343T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997343T>C Locations: - p.Ile18Val (Ensembl:ENST00000219400) - c.52A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1968508019 | 19 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.80997338G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997338G>C Locations: - p.Asn19Lys (Ensembl:ENST00000219400) - c.57C>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV106359104 | 20 | L>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.80997336A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.80997336A>T Locations: - p.Leu20Ter (cosmic curated:ENST00000565914) - c.59T>A (cosmic curated:ENST00000565914) - p.Leu20Ter (cosmic curated:ENST00000565650) - c.59T>A (cosmic curated:ENST00000565650) - p.Leu20Ter (cosmic curated:ENST00000564249) - c.59T>A (cosmic curated:ENST00000564249) Source type: large scale study Cross-references: | |||||||
rs1437277265 | 20 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.241) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.80997335C>G, NC_000016.10:g.80997335C>A Codon: TTG/TTC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997335C>G, NC_000016.10:g.80997335C>A Locations: - p.Leu20Phe (Ensembl:ENST00000219400) - c.60G>C (Ensembl:ENST00000219400) - c.60G>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs751703012 | 21 | L>F | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.80997334G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997334G>A Locations: - p.Leu21Phe (Ensembl:ENST00000219400) - c.61C>T (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs751703012 | 21 | L>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997334G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997334G>T Locations: - p.Leu21Ile (Ensembl:ENST00000219400) - c.61C>A (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs1259054585 | 22 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.499) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997331T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997331T>C Locations: - p.Lys22Glu (Ensembl:ENST00000219400) - c.64A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs2151645927 | 23 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.80997328C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997328C>A Locations: - p.Glu23Ter (Ensembl:ENST00000219400) - c.67G>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs2151645910 | 24 | C>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.80997323A>T Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997323A>T Locations: - p.Cys24Ter (Ensembl:ENST00000219400) - c.72T>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV104375583 rs764267842 | 24 | C>R | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.80997325A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997325A>G Locations: - p.Cys24Arg (Ensembl:ENST00000219400) - c.70T>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs764267842 | 24 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997325A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997325A>T Locations: - p.Cys24Ser (Ensembl:ENST00000219400) - c.70T>A (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs963441949 | 24 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.80997324C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997324C>T Locations: - p.Cys24Tyr (Ensembl:ENST00000219400) - c.71G>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs758665076 | 25 | H>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997322G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997322G>C Locations: - p.His25Asp (Ensembl:ENST00000219400) - c.73C>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs758665076 | 25 | H>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.80997322G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997322G>T Locations: - p.His25Asn (Ensembl:ENST00000219400) - c.73C>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs2151645899 | 25 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80997320G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997320G>T Locations: - p.His25Gln (Ensembl:ENST00000219400) - c.75C>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1230454098 | 26 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.80997317T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997317T>G Locations: - p.Lys26Asn (Ensembl:ENST00000219400) - c.78A>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
TCGA novel | 26 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.80997318T>C Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997318T>C Locations: - c.77A>G (NCI-TCGA:ENST00000219400) - p.K26R (NCI-TCGA:ENST00000219400) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1330160047 TCGA novel | 27 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed gnomAD NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.05) - PolyPhen: benign (0.011) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.80997314A>T, NC_000016.10:g.80997314A>C Codon: AAT/AAA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80997314A>T, NC_000016.10:g.80997314A>C Locations: - p.Asn27Lys (Ensembl:ENST00000219400) - c.81T>A (Ensembl:ENST00000219400) - c.81T>G (NCI-TCGA:ENST00000219400) - p.N27K (NCI-TCGA:ENST00000219400) Source type: large scale study | |||||||
rs1967141294 | 28 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.719) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80981875G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981875G>C Locations: - p.His28Gln (Ensembl:ENST00000219400) - c.84C>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1567510064 | 28 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.80981877G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981877G>A Locations: - p.His28Tyr (Ensembl:ENST00000219400) - c.82C>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1199654148 | 32 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.80981863T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981863T>A Locations: - p.Lys32Asn (Ensembl:ENST00000219400) - c.96A>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV104375586 rs1050470894 | 33 | F>C | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000016.10:g.80981861A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981861A>C Locations: - p.Phe33Cys (Ensembl:ENST00000219400) - c.98T>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs761117497 | 33 | F>L | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.80981862A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981862A>G Locations: - p.Phe33Leu (Ensembl:ENST00000219400) - c.97T>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs773699820 | 34 | F>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80981858A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981858A>G Locations: - p.Phe34Ser (Ensembl:ENST00000219400) - c.101T>C (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs557509954 | 35 | G>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.80981855C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981855C>T Locations: - p.Gly35Asp (Ensembl:ENST00000219400) - c.104G>A (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs371359932 | 36 | Y>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.80981851A>C Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981851A>C Locations: - p.Tyr36Ter (Ensembl:ENST00000219400) - c.108T>G (Ensembl:ENST00000219400) Source type: large scale study | |||||||
TCGA novel | 36 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.455) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.80981852T>C Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981852T>C Locations: - c.107A>G (NCI-TCGA:ENST00000219400) - p.Y36C (NCI-TCGA:ENST00000219400) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs768875620 | 38 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80981847T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981847T>C Locations: - p.Asn38Asp (Ensembl:ENST00000219400) - c.112A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1364804384 | 40 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000016.10:g.80981841C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981841C>T Locations: - p.Val40Ile (Ensembl:ENST00000219400) - c.118G>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV54728712 rs781067998 | 42 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.26) - PolyPhen: benign (0.046) - SIFT: tolerated (0.11) Somatic: Yes Population frequencies: - MAF: 0.000008035 (gnomAD) Accession: NC_000016.10:g.80981834C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981834C>T Locations: - p.R42Q (NCI-TCGA:ENST00000219400) - p.Arg42Gln (Ensembl:ENST00000219400) - c.125G>A (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs766956903 | 42 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.80981835G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981835G>A Locations: - p.Arg42Trp (Ensembl:ENST00000219400) - c.124C>T (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs1967136076 | 43 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.80981832C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981832C>T Locations: - p.Glu43Lys (Ensembl:ENST00000219400) - c.127G>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV54730506 | 44 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.80981827C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.80981827C>G Locations: - p.Leu44Phe (cosmic curated:ENST00000564249) - c.132G>C (cosmic curated:ENST00000564249) - p.Leu44Phe (cosmic curated:ENST00000565650) - c.132G>C (cosmic curated:ENST00000565650) - p.Leu44Phe (cosmic curated:ENST00000565914) - c.132G>C (cosmic curated:ENST00000565914) Source type: large scale study Cross-references: | |||||||
COSV54730648 rs184621299 | 45 | R>K | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000016.10:g.80981825C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981825C>T Locations: - p.Arg45Lys (Ensembl:ENST00000219400) - c.134G>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs184621299 | 45 | R>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80981825C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981825C>G Locations: - p.Arg45Thr (Ensembl:ENST00000219400) - c.134G>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV99548114 | 47 | C>F | 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_000016.10:g.80981819C>A Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981819C>A Locations: - c.140G>T (NCI-TCGA:ENST00000219400) - p.C47F (NCI-TCGA:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1967134778 | 47 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80981820A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981820A>G Locations: - p.Cys47Arg (Ensembl:ENST00000219400) - c.139T>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1967134125 | 47 | C>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80981818G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981818G>C Locations: - p.Cys47Trp (Ensembl:ENST00000219400) - c.141C>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs555611878 | 47 | C>Y | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.80981819C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981819C>T Locations: - p.Cys47Tyr (Ensembl:ENST00000219400) - c.140G>A (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs752199735 | 48 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.80981817G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981817G>C Locations: - p.Leu48Val (Ensembl:ENST00000219400) - c.142C>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1967133233 | 49 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.80981814T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981814T>C Locations: - p.Lys49Glu (Ensembl:ENST00000219400) - c.145A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1477268014 | 49 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.80981812C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981812C>A Locations: - p.Lys49Asn (Ensembl:ENST00000219400) - c.147G>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1223993741 | 49 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.338) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.80981813T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981813T>C Locations: - p.Lys49Arg (Ensembl:ENST00000219400) - c.146A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1177184124 | 51 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80981807T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80981807T>A Locations: - p.Glu51Val (Ensembl:ENST00000219400) - c.152A>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs758905230 | 52 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.80976177G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976177G>C Locations: - p.Tyr52Ter (Ensembl:ENST00000219400) - c.156C>G (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs1379167702 | 52 | Y>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.80976178T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976178T>A Locations: - p.Tyr52Phe (Ensembl:ENST00000219400) - c.155A>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV107267288 rs1127390 | 53 | V>I | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: Yes Population frequencies: - MAF: 0.397174 (1000Genomes) Accession: NC_000016.10:g.80976176C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976176C>T Locations: - p.Val53Ile (Ensembl:ENST00000219400) - c.157G>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1127390 | 53 | V>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.87) Somatic: No Population frequencies: - MAF: 0.397174 (1000Genomes) Accession: NC_000016.10:g.80976176C>A Codon: GTA/TTA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976176C>A Locations: - p.Val53Leu (Ensembl:ENST00000219400) - c.157G>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs200941646 | 54 | E>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.80976172T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976172T>C Locations: - p.Glu54Gly (Ensembl:ENST00000219400) - c.161A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1236026381 | 54 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.80976173C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976173C>T Locations: - p.Glu54Lys (Ensembl:ENST00000219400) - c.160G>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs140972336 COSV54730711 | 55 | N>K | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000016.10:g.80976168G>C, NC_000016.10:g.80976168G>T Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976168G>C, NC_000016.10:g.80976168G>T Locations: - p.Asn55Lys (Ensembl:ENST00000219400) - c.165C>G (Ensembl:ENST00000219400) - c.165C>A (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs759681083 | 55 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80976169T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976169T>C Locations: - p.Asn55Ser (Ensembl:ENST00000219400) - c.164A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1199246681 | 56 | R>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80976166C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976166C>A Locations: - p.Arg56Met (Ensembl:ENST00000219400) - c.167G>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs868158782 | 58 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000016.10:g.80976160T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976160T>C Locations: - p.Lys58Arg (Ensembl:ENST00000219400) - c.173A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1256973499 | 59 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.80976157C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976157C>A Locations: - p.Ser59Ile (Ensembl:ENST00000219400) - c.176G>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV99548264 | 60 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.80976153C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.80976153C>A Locations: - p.Arg60Ser (cosmic curated:ENST00000565914) - c.180G>T (cosmic curated:ENST00000565914) - p.Arg60Ser (cosmic curated:ENST00000564249) - c.180G>T (cosmic curated:ENST00000564249) - p.Arg60Ser (cosmic curated:ENST00000565650) - c.180G>T (cosmic curated:ENST00000565650) Source type: large scale study Cross-references: | |||||||
rs1912308002 | 61 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.606) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.80976150C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976150C>A Locations: - p.Glu61Asp (Ensembl:ENST00000219400) - c.183G>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs200012173 | 62 | H>Q | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.80976147A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976147A>C Locations: - p.His62Gln (Ensembl:ENST00000219400) - c.186T>G (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs1374910522 | 62 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.80976148T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976148T>C Locations: - p.His62Arg (Ensembl:ENST00000219400) - c.185A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1385404077 | 62 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.178) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.80976149G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976149G>A Locations: - p.His62Tyr (Ensembl:ENST00000219400) - c.184C>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
TCGA novel | 63 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.80976145C>A Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976145C>A Locations: - c.188G>T (NCI-TCGA:ENST00000219400) - p.G63V (NCI-TCGA:ENST00000219400) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs369812890 | 64 | I>F | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.80976143T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976143T>A Locations: - p.Ile64Phe (Ensembl:ENST00000219400) - c.190A>T (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs1912305056 | 64 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000016.10:g.80976142A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976142A>G Locations: - p.Ile64Thr (Ensembl:ENST00000219400) - c.191T>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1912304613 | 65 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000016.10:g.80976140C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976140C>A Locations: - p.Ala65Ser (Ensembl:ENST00000219400) - c.193G>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs866043362 COSV99548233 | 66 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: tolerated (0.14) - PolyPhen: benign (0.087) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000016.10:g.80976135C>T, NC_000016.10:g.80976135C>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976135C>T, NC_000016.10:g.80976135C>A Locations: - p.Met66Ile (Ensembl:ENST00000219400) - c.198G>A (Ensembl:ENST00000219400) - c.198G>T (NCI-TCGA:ENST00000219400) - p.M66I (NCI-TCGA:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1912303136 | 66 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.80976136A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976136A>G Locations: - p.Met66Thr (Ensembl:ENST00000219400) - c.197T>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs986430937 | 66 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.80976137T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976137T>C Locations: - p.Met66Val (Ensembl:ENST00000219400) - c.196A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV54729932 rs762821797 | 67 | R>* | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.80976134G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976134G>A Locations: - p.Arg67Ter (Ensembl:ENST00000219400) - c.199C>T (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs775393956 | 67 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: tolerated (0.23) - PolyPhen: benign (0.112) - SIFT: tolerated (0.23) Somatic: No Population frequencies: - MAF: 0.000003991 (gnomAD) Accession: NC_000016.10:g.80976133C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976133C>T Locations: - p.R67Q (NCI-TCGA:ENST00000219400) - p.Arg67Gln (Ensembl:ENST00000219400) - c.200G>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
COSV54729762 COSV99548360 rs541435706 | 68 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious (0.02) - PolyPhen: benign (0.204) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.80976129C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976129C>A Locations: - p.K68N (NCI-TCGA:ENST00000219400) - p.Lys68Asn (Ensembl:ENST00000219400) - c.204G>T (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs1418925050 | 68 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000016.10:g.80976131T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976131T>G Locations: - p.Lys68Gln (Ensembl:ENST00000219400) - c.202A>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1912299553 | 69 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80976128T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976128T>C Locations: - p.Lys69Glu (Ensembl:ENST00000219400) - c.205A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1912299094 | 69 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.80976126T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976126T>A Locations: - p.Lys69Asn (Ensembl:ENST00000219400) - c.207A>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
TCGA novel | 70 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80976124A>C Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976124A>C Locations: - c.209T>G (NCI-TCGA:ENST00000219400) - p.L70R (NCI-TCGA:ENST00000219400) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs201310266 | 70 | L>V | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.80976125G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976125G>C Locations: - p.Leu70Val (Ensembl:ENST00000219400) - c.208C>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1912298226 | 71 | F>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.371) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.80976121A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976121A>C Locations: - p.Phe71Cys (Ensembl:ENST00000219400) - c.212T>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs769791284 | 71 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000016.10:g.80976120A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976120A>C Locations: - p.Phe71Leu (Ensembl:ENST00000219400) - c.213T>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1180199360 | 72 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.80976118T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976118T>C Locations: - p.Asn72Ser (Ensembl:ENST00000219400) - c.215A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs776226623 | 73 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.80976115G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976115G>A Locations: - p.Pro73Leu (Ensembl:ENST00000219400) - c.218C>T (Ensembl:ENST00000219400) Source type: large scale study | |||||||
COSV99548140 rs745359055 | 73 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.64) - PolyPhen: benign (0.001) - SIFT: tolerated (0.31) Somatic: Yes Population frequencies: - MAF: 0.000004013 (gnomAD) Accession: NC_000016.10:g.80976116G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976116G>A Locations: - p.P73S (NCI-TCGA:ENST00000219400) - p.Pro73Ser (Ensembl:ENST00000219400) - c.217C>T (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs1185983339 | 74 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.80976112G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976112G>A Locations: - p.Pro74Leu (Ensembl:ENST00000219400) - c.221C>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs1912294446 | 75 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.80976109T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976109T>C Locations: - p.Glu75Gly (Ensembl:ENST00000219400) - c.224A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs746677657 | 75 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000016.10:g.80976110C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976110C>T Locations: - p.Glu75Lys (Ensembl:ENST00000219400) - c.223G>A (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs746677657 | 75 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.80976110C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976110C>G Locations: - p.Glu75Gln (Ensembl:ENST00000219400) - c.223G>C (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs563542917 | 76 | E>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.80976107C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976107C>A Locations: - p.Glu76Ter (Ensembl:ENST00000219400) - c.226G>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs910351469 | 76 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.80976105T>G, NC_000016.10:g.80976105T>A Codon: GAA/GAC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976105T>G, NC_000016.10:g.80976105T>A Locations: - p.Glu76Asp (Ensembl:ENST00000219400) - c.228A>C (Ensembl:ENST00000219400) - c.228A>T (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs563542917 | 76 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.05) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.80976107C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976107C>T Locations: - p.Glu76Lys (Ensembl:ENST00000219400) - c.226G>A (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs140656923 | 77 | S>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80976103G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976103G>C Locations: - p.Ser77Cys (Ensembl:ENST00000219400) - c.230C>G (Ensembl:ENST00000219400) Source type: large scale study | |||||||
COSV54729017 rs376325635 | 78 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) - PolyPhen: benign (0.006) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.00003191 (gnomAD) Accession: NC_000016.10:g.80976101C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976101C>T Locations: - p.E78K (NCI-TCGA:ENST00000219400) - p.Glu78Lys (Ensembl:ENST00000219400) - c.232G>A (Ensembl:ENST00000219400) Source type: large scale study | |||||||
rs1224556576 | 79 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.80976098T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976098T>C Locations: - p.Lys79Glu (Ensembl:ENST00000219400) - c.235A>G (Ensembl:ENST00000219400) Source type: large scale study Cross-references: | |||||||
rs753814170 | 80 | *>Q | ExAC gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000016.10:g.80976095A>G Codon: TAA/CAA Consequence type: stop lost Cytogenetic band: 16q23.2 Genomic location: NC_000016.10:g.80976095A>G Locations: - p.Ter80GlnextTer33 (Ensembl:ENST00000219400) - c.238T>C (Ensembl:ENST00000219400) Source type: large scale study Cross-references: |