F5H3A2 · F5H3A2_HUMAN
- ProteinPlexin C1
- GenePLXNC1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids307 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV99312219 rs116512321 | 1 | M>? | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94282306A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282306A>G Locations: - p.Met1? (cosmic curated:ENST00000545312) - c.1A>G (cosmic curated:ENST00000545312) Source type: large scale study | |||||||
COSV51570710 | 2 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94282309G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94282309G>T Locations: - p.Gly2Cys (cosmic curated:ENST00000545312) - c.4G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs780094566 | 3 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94282313C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282313C>T Locations: - p.Thr3Ile (Ensembl:ENST00000545312) - c.8C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs780094566 | 3 | T>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000012.12:g.94282313C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282313C>A Locations: - p.Thr3Lys (Ensembl:ENST00000545312) - c.8C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51573732 rs747289625 | 4 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000012.12:g.94282315C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282315C>T Locations: - p.R4* (NCI-TCGA:ENST00000545312) - p.Arg4Ter (Ensembl:ENST00000545312) - c.10C>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs768555101 | 4 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000012.12:g.94282316G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282316G>T Locations: - p.Arg4Leu (Ensembl:ENST00000545312) - c.11G>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs768555101 | 4 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.000007955 (gnomAD) Accession: NC_000012.12:g.94282316G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282316G>A Locations: - p.R4Q (NCI-TCGA:ENST00000545312) - p.Arg4Gln (Ensembl:ENST00000545312) - c.11G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51580937 rs1244214849 | 5 | Q>K | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000012.12:g.94282318C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282318C>A Locations: - p.Gln5Lys (Ensembl:ENST00000545312) - c.13C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51569231 COSV51573099 | 7 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94282324G>T Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282324G>T Locations: - p.E7* (NCI-TCGA:ENST00000545312) - p.Glu7Ter (cosmic curated:ENST00000545312) - c.19G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51569231 COSV51573099 | 7 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94282324G>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282324G>A Locations: - p.E7K (NCI-TCGA:ENST00000545312) - p.Glu7Lys (cosmic curated:ENST00000545312) - c.19G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1162061587 | 8 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94282327C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282327C>T Locations: - p.Leu8Phe (Ensembl:ENST00000545312) - c.22C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs765418579 | 11 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94282338C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282338C>G Locations: - p.Ile11Met (Ensembl:ENST00000545312) - c.33C>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1436745529 | 11 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.367) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000012.12:g.94282336A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282336A>G Locations: - p.Ile11Val (Ensembl:ENST00000545312) - c.31A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs940056690 | 12 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94282339G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282339G>A Locations: - p.Asp12Asn (Ensembl:ENST00000545312) - c.34G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs774102054 | 13 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000012.12:g.94282342A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282342A>T Locations: - p.Ser13Cys (Ensembl:ENST00000545312) - c.37A>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV108050105 | 13 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94282343G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94282343G>T Locations: - p.Ser13Ile (cosmic curated:ENST00000545312) - c.38G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs901096871 | 13 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000012.12:g.94282343G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282343G>A Locations: - p.Ser13Asn (Ensembl:ENST00000545312) - c.38G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1966503378 | 14 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94282346C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282346C>T Locations: - p.Ser14Phe (Ensembl:ENST00000545312) - c.41C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1966503378 | 14 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94282346C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282346C>A Locations: - p.Ser14Tyr (Ensembl:ENST00000545312) - c.41C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs895914400 | 16 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.408) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000012.12:g.94282351G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282351G>C Locations: - p.Val16Leu (Ensembl:ENST00000545312) - c.46G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs895914400 | 16 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.94282351G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282351G>A Locations: - p.Val16Met (Ensembl:ENST00000545312) - c.46G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1966504843 | 17 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94282354A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282354A>C Locations: - p.Ile17Leu (Ensembl:ENST00000545312) - c.49A>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1289196976 | 19 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000012.12:g.94282360G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282360G>C Locations: - p.Glu19Gln (Ensembl:ENST00000545312) - c.55G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1966505828 | 21 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94282367G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282367G>C Locations: - p.Gly21Ala (Ensembl:ENST00000545312) - c.62G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV105861421 | 21 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94282367G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94282367G>T Locations: - p.Gly21Val (cosmic curated:ENST00000545312) - c.62G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1966506088 | 22 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000012.12:g.94282369A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282369A>C Locations: - p.Ile22Leu (Ensembl:ENST00000545312) - c.64A>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs2136146944 | 23 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.624) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94282372A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282372A>G Locations: - p.Thr23Ala (Ensembl:ENST00000545312) - c.67A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1966506633 | 23 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94282373C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282373C>A Locations: - p.Thr23Asn (Ensembl:ENST00000545312) - c.68C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs145185575 | 28 | I>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94282389T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282389T>G Locations: - p.Ile28Met (Ensembl:ENST00000545312) - c.84T>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1966507368 | 28 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94282388T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282388T>C Locations: - p.Ile28Thr (Ensembl:ENST00000545312) - c.83T>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1966508543 | 30 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94282393C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282393C>T Locations: - p.His30Tyr (Ensembl:ENST00000545312) - c.88C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs372794681 | 31 | Y>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94282397A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282397A>G Locations: - p.Tyr31Cys (Ensembl:ENST00000545312) - c.92A>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1470956726 | 32 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000012.12:g.94282399G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94282399G>A Locations: - p.Glu32Lys (Ensembl:ENST00000545312) - c.94G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs764875445 | 33 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94294488A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294488A>G Locations: - p.Ile33Met (Ensembl:ENST00000545312) - c.99A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1967703780 | 33 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94294487T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294487T>C Locations: - p.Ile33Thr (Ensembl:ENST00000545312) - c.98T>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1279598624 | 33 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.7) Somatic: No Accession: NC_000012.12:g.94294486A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294486A>G Locations: - p.Ile33Val (Ensembl:ENST00000545312) - c.97A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99312381 | 34 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94294490C>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294490C>A Locations: - p.S34* (NCI-TCGA:ENST00000545312) - p.Ser34Ter (cosmic curated:ENST00000545312) - c.101C>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs894821508 | 34 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000012.12:g.94294489T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294489T>G Locations: - p.Ser34Ala (Ensembl:ENST00000545312) - c.100T>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1398416102 | 35 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000012.12:g.94294492A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294492A>G Locations: - p.Asn35Asp (Ensembl:ENST00000545312) - c.103A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1222334114 | 35 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000012.12:g.94294493A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294493A>G Locations: - p.Asn35Ser (Ensembl:ENST00000545312) - c.104A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1011889041 | 36 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.94294496G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294496G>A Locations: - p.Gly36Glu (Ensembl:ENST00000545312) - c.107G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1261187346 | 36 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.94294495G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294495G>A Locations: - p.Gly36Arg (Ensembl:ENST00000545312) - c.106G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1967706381 | 37 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94294499C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294499C>T Locations: - p.Ser37Phe (Ensembl:ENST00000545312) - c.110C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1967707286 | 38 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000012.12:g.94294501A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294501A>G Locations: - p.Thr38Ala (Ensembl:ENST00000545312) - c.112A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1009701414 | 38 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000012.12:g.94294502C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294502C>G Locations: - p.Thr38Ser (Ensembl:ENST00000545312) - c.113C>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51578730 | 39 | I>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94294504A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94294504A>C Locations: - p.Ile39Leu (cosmic curated:ENST00000545312) - c.115A>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs199500866 | 39 | I>M | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000012.12:g.94294506A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294506A>G Locations: - p.Ile39Met (Ensembl:ENST00000545312) - c.117A>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1325528045 | 39 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000012.12:g.94294504A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294504A>G Locations: - p.Ile39Val (Ensembl:ENST00000545312) - c.115A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1967708824 | 40 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94294507A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294507A>G Locations: - p.Lys40Glu (Ensembl:ENST00000545312) - c.118A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1967709120 | 42 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000012.12:g.94294515T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294515T>A Locations: - p.Phe42Leu (Ensembl:ENST00000545312) - c.126T>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs535595218 | 43 | K>T | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000012.12:g.94294517A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294517A>C Locations: - p.Lys43Thr (Ensembl:ENST00000545312) - c.128A>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1019888067 | 45 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000012.12:g.94294524A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294524A>G Locations: - p.Ile45Met (Ensembl:ENST00000545312) - c.135A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1195569840 | 45 | I>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: NC_000012.12:g.94294523T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294523T>G Locations: - p.Ile45Arg (Ensembl:ENST00000545312) - c.134T>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1195569840 | 45 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000012.12:g.94294523T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294523T>C Locations: - p.Ile45Thr (Ensembl:ENST00000545312) - c.134T>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51569647 | 46 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94294525G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94294525G>T Locations: - p.Ala46Ser (cosmic curated:ENST00000545312) - c.136G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1480169710 | 46 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated - low confidence (0.69) Somatic: No Accession: NC_000012.12:g.94294525G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294525G>A Locations: - p.Ala46Thr (Ensembl:ENST00000545312) - c.136G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1465641590 | 47 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000012.12:g.94294529A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294529A>G Locations: - p.Asn47Ser (Ensembl:ENST00000545312) - c.140A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99312656 | 47 | N>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94294529A>C Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294529A>C Locations: - p.N47T (NCI-TCGA:ENST00000545312) - p.Asn47Thr (cosmic curated:ENST00000545312) - c.140A>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs879111134 | 48 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000012.12:g.94294531T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294531T>G Locations: - p.F48V (NCI-TCGA:ENST00000545312) - p.Phe48Val (Ensembl:ENST00000545312) - c.142T>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1174282848 | 49 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000012.12:g.94294535C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94294535C>G Locations: - p.Thr49Ser (Ensembl:ENST00000545312) - c.146C>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968016442 | 51 | D>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94297189A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297189A>T Locations: - p.Asp51Val (Ensembl:ENST00000545312) - c.152A>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1222290205 | 52 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000012.12:g.94297191G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297191G>A Locations: - p.Val52Met (Ensembl:ENST00000545312) - c.154G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968016993 | 54 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.94297199C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297199C>A Locations: - p.Tyr54Ter (Ensembl:ENST00000545312) - c.162C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968017279 | 55 | S>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000012.12:g.94297200T>G Codon: TCG/GCG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297200T>G Locations: - p.Ser55Ala (Ensembl:ENST00000545312) - c.163T>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1360830855 | 55 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.367) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94297201C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297201C>T Locations: - p.Ser55Leu (Ensembl:ENST00000545312) - c.164C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968018401 | 56 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000012.12:g.94297205T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297205T>A Locations: - p.Asp56Glu (Ensembl:ENST00000545312) - c.168T>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1223803005 | 56 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000012.12:g.94297204A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297204A>T Locations: - p.Asp56Val (Ensembl:ENST00000545312) - c.167A>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1369076123 | 57 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000012.12:g.94297208C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297208C>A Locations: - p.Asp57Glu (Ensembl:ENST00000545312) - c.171C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51581651 | 57 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94297206G>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297206G>A Locations: - p.D57N (NCI-TCGA:ENST00000545312) - p.Asp57Asn (cosmic curated:ENST00000545312) - c.169G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1300791863 | 57 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94297206G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297206G>T Locations: - p.Asp57Tyr (Ensembl:ENST00000545312) - c.169G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51576797 | 60 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94297215C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94297215C>T Locations: - p.His60Tyr (cosmic curated:ENST00000545312) - c.178C>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1249679832 | 63 | L>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated - low confidence (0.58) Somatic: No Accession: NC_000012.12:g.94297320T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297320T>C Locations: - p.Leu63Ser (Ensembl:ENST00000545312) - c.188T>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs200861067 | 64 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94297323C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297323C>T Locations: - p.Pro64Leu (Ensembl:ENST00000545312) - c.191C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs555765070 | 64 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94297322C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297322C>T Locations: - p.Pro64Ser (Ensembl:ENST00000545312) - c.190C>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1432946778 | 65 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94297326A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297326A>T Locations: - p.Asp65Val (Ensembl:ENST00000545312) - c.194A>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs201863875 | 66 | S>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated - low confidence (0.47) Somatic: No Accession: NC_000012.12:g.94297329C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297329C>T Locations: - p.Ser66Leu (Ensembl:ENST00000545312) - c.197C>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV99314003 | 70 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94297340C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94297340C>A Locations: - p.Gln70Lys (cosmic curated:ENST00000545312) - c.208C>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1183896304 | 71 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000012.12:g.94297345T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297345T>A Locations: - p.Asp71Glu (Ensembl:ENST00000545312) - c.213T>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51584593 | 71 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94297343G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94297343G>C Locations: - p.Asp71His (cosmic curated:ENST00000545312) - c.211G>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs763025260 | 71 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.453) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.94297343G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297343G>A Locations: - p.Asp71Asn (Ensembl:ENST00000545312) - c.211G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs567944857 | 72 | V>M | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.338) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000012.12:g.94297346G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297346G>A Locations: - p.Val72Met (Ensembl:ENST00000545312) - c.214G>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV51583433 | 73 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94297349C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94297349C>A Locations: - p.Gln73Lys (cosmic curated:ENST00000545312) - c.217C>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs748879231 | 73 | Q>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94297350A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297350A>T Locations: - p.Gln73Leu (Ensembl:ENST00000545312) - c.218A>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs770370432 | 74 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000012.12:g.94297353G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297353G>C Locations: - p.Gly74Ala (Ensembl:ENST00000545312) - c.221G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs376990208 | 75 | K>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000012.12:g.94297357G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297357G>C Locations: - p.Lys75Asn (Ensembl:ENST00000545312) - c.225G>C (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1968040327 | 76 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000012.12:g.94297358A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297358A>G Locations: - p.Arg76Gly (Ensembl:ENST00000545312) - c.226A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1224680945 | 76 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000012.12:g.94297360A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297360A>T Locations: - p.Arg76Ser (Ensembl:ENST00000545312) - c.228A>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs772363003 | 77 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000012.12:g.94297363T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297363T>A Locations: - p.His77Gln (Ensembl:ENST00000545312) - c.231T>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51578907 | 78 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94297364C>T Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297364C>T Locations: - p.R78* (NCI-TCGA:ENST00000545312) - p.Arg78Ter (cosmic curated:ENST00000545312) - c.232C>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1285533880 | 78 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: tolerated - low confidence (0.95) Somatic: No Accession: NC_000012.12:g.94297365G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297365G>C Locations: - p.Arg78Pro (Ensembl:ENST00000545312) - c.233G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51577834 | 78 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94297365G>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297365G>A Locations: - p.R78Q (NCI-TCGA:ENST00000545312) - p.Arg78Gln (cosmic curated:ENST00000545312) - c.233G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968041630 | 79 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000012.12:g.94297367G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297367G>A Locations: - p.Gly79Arg (Ensembl:ENST00000545312) - c.235G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968041941 | 79 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94297368G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297368G>T Locations: - p.Gly79Val (Ensembl:ENST00000545312) - c.236G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313697 | 79 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94297367G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94297367G>T Locations: - p.Gly79Trp (cosmic curated:ENST00000545312) - c.235G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51574848 | 82 | K>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94297377A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94297377A>C Locations: - p.Lys82Thr (cosmic curated:ENST00000545312) - c.245A>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51569197 COSV51572923 rs1200282972 | 83 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated - low confidence (0.77) Somatic: Yes Accession: NC_000012.12:g.94297381C>G, NC_000012.12:g.94297379T>C Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297381C>G, NC_000012.12:g.94297379T>C Locations: - p.F83L (NCI-TCGA:ENST00000545312) - p.Phe83Leu (cosmic curated:ENST00000545312) - c.249C>G (cosmic curated:ENST00000545312) - p.Phe83Leu (Ensembl:ENST00000545312) - c.247T>C (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1304351717 | 84 | K>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94297383A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297383A>T Locations: - p.Lys84Ile (Ensembl:ENST00000545312) - c.251A>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968043047 | 84 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94297384A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297384A>T Locations: - p.Lys84Asn (Ensembl:ENST00000545312) - c.252A>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51586322 | 87 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94297391G>T Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297391G>T Locations: - p.E87* (NCI-TCGA:ENST00000545312) - p.Glu87Ter (cosmic curated:ENST00000545312) - c.259G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs201665971 | 90 | L>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94297400C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297400C>A Locations: - p.Leu90Met (Ensembl:ENST00000545312) - c.268C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs751459922 | 95 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94297416C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297416C>T Locations: - p.Ser95Leu (Ensembl:ENST00000545312) - c.284C>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1968045485 | 96 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94297419C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94297419C>T Locations: - p.Thr96Ile (Ensembl:ENST00000545312) - c.287C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs147905242 | 99 | A>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298636C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298636C>A Locations: - p.Ala99Glu (Ensembl:ENST00000545312) - c.296C>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs147905242 | 99 | A>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298636C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298636C>G Locations: - p.Ala99Gly (Ensembl:ENST00000545312) - c.296C>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV51581792 | 99 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298636C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94298636C>T Locations: - p.Ala99Val (cosmic curated:ENST00000545312) - c.296C>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51573487 | 101 | H>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298642A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94298642A>C Locations: - p.His101Pro (cosmic curated:ENST00000545312) - c.302A>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1477286789 | 102 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94298645C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298645C>G Locations: - p.Ser102Cys (Ensembl:ENST00000545312) - c.305C>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51582367 | 102 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298645C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94298645C>T Locations: - p.Ser102Phe (cosmic curated:ENST00000545312) - c.305C>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99314082 | 104 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298650C>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298650C>A Locations: - p.L104I (NCI-TCGA:ENST00000545312) - p.Leu104Ile (cosmic curated:ENST00000545312) - c.310C>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs773496033 | 105 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298654A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298654A>G Locations: - p.Glu105Gly (Ensembl:ENST00000545312) - c.314A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968169086 | 106 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000012.12:g.94298656A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298656A>G Locations: - p.Lys106Glu (Ensembl:ENST00000545312) - c.316A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51584993 | 107 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298660T>G Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298660T>G Locations: - p.L107R (NCI-TCGA:ENST00000545312) - p.Leu107Arg (cosmic curated:ENST00000545312) - c.320T>G (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51571692 | 109 | R>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298665A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94298665A>T Locations: - p.Arg109Ter (cosmic curated:ENST00000545312) - c.325A>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1244394733 | 111 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298673T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298673T>G Locations: - p.Ile111Met (Ensembl:ENST00000545312) - c.333T>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968169791 | 112 | W>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298675G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298675G>C Locations: - p.Trp112Ser (Ensembl:ENST00000545312) - c.335G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1193255370 | 113 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000012.12:g.94298678G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298678G>A Locations: - p.Ser113Asn (Ensembl:ENST00000545312) - c.338G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1592999905 | 113 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298679T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298679T>G Locations: - p.Ser113Arg (Ensembl:ENST00000545312) - c.339T>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313901 rs1968170631 | 115 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated - low confidence (0.11) Somatic: Yes Accession: NC_000012.12:g.94298683C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298683C>T Locations: - p.P115S (NCI-TCGA:ENST00000545312) - p.Pro115Ser (Ensembl:ENST00000545312) - c.343C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313820 rs1267515224 | 117 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (1) Somatic: Yes Population frequencies: - MAF: 0.000004012 (gnomAD) Accession: NC_000012.12:g.94298690G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298690G>A Locations: - p.S117N (NCI-TCGA:ENST00000545312) - p.Ser117Asn (Ensembl:ENST00000545312) - c.350G>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV51577737 rs531024061 | 119 | A>V | cosmic curated 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: tolerated - low confidence (0.13) Somatic: Yes Accession: NC_000012.12:g.94298696C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298696C>T Locations: - p.Ala119Val (Ensembl:ENST00000545312) - c.356C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51571896 | 120 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298698C>T Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298698C>T Locations: - p.P120S (NCI-TCGA:ENST00000545312) - p.Pro120Ser (cosmic curated:ENST00000545312) - c.358C>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
CA6721299 COSV107255240 RCV000513388 rs115408156 | 121 | F>Y | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: tolerated - low confidence (0.78) Somatic: Yes Population frequencies: - MAF: 0.0018 (ClinVar) Accession: NC_000012.12:g.94298702T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298702T>A Locations: - p.Phe121Tyr (Ensembl:ENST00000545312) - c.362T>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV51579326 | 122 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298705C>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298705C>A Locations: - p.A122D (NCI-TCGA:ENST00000545312) - p.Ala122Asp (cosmic curated:ENST00000545312) - c.365C>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV108050099 | 122 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298704G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94298704G>T Locations: - p.Ala122Ser (cosmic curated:ENST00000545312) - c.364G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99312595 | 124 | K>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298710A>C Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298710A>C Locations: - p.K124Q (NCI-TCGA:ENST00000545312) - p.Lys124Gln (cosmic curated:ENST00000545312) - c.370A>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs767613674 | 124 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.94298711A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298711A>G Locations: - p.Lys124Arg (Ensembl:ENST00000545312) - c.371A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs752703774 | 125 | Y>* | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.94298715C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298715C>G Locations: - p.Tyr125Ter (Ensembl:ENST00000545312) - c.375C>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1425740409 | 126 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298717T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298717T>C Locations: - p.Phe126Ser (Ensembl:ENST00000545312) - c.377T>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs755934474 | 127 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298721T>A, NC_000012.12:g.94298721T>G Codon: TTT/TTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298721T>A, NC_000012.12:g.94298721T>G Locations: - p.Phe127Leu (Ensembl:ENST00000545312) - c.381T>A (Ensembl:ENST00000545312) - c.381T>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51584122 | 128 | D>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298721-94298722>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94298721-94298722>T Locations: - p.Asp128Ter (cosmic curated:ENST00000545312) - c.381dup (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313498 | 130 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298730G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94298730G>T Locations: - p.Leu130Phe (cosmic curated:ENST00000545312) - c.390G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968174241 | 131 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298731G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298731G>T Locations: - p.Asp131Tyr (Ensembl:ENST00000545312) - c.391G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313908 rs753472884 | 132 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: tolerated - low confidence (0.26) Somatic: Yes Accession: NC_000012.12:g.94298734G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298734G>A Locations: - p.Ala132Thr (Ensembl:ENST00000545312) - c.394G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs756915393 | 132 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000012.12:g.94298735C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298735C>T Locations: - p.Ala132Val (Ensembl:ENST00000545312) - c.395C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968175240 | 134 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94298740G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298740G>T Locations: - p.Ala134Ser (Ensembl:ENST00000545312) - c.400G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51571809 | 135 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298743G>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298743G>A Locations: - p.E135K (NCI-TCGA:ENST00000545312) - p.Glu135Lys (cosmic curated:ENST00000545312) - c.403G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51573885 | 138 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298753A>C Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298753A>C Locations: - p.K138T (NCI-TCGA:ENST00000545312) - p.Lys138Thr (cosmic curated:ENST00000545312) - c.413A>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99314213 rs905522550 | 140 | T>A | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000012.12:g.94298758A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298758A>G Locations: - p.Thr140Ala (Ensembl:ENST00000545312) - c.418A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1593000282 | 142 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298764C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298764C>A Locations: - p.Pro142Thr (Ensembl:ENST00000545312) - c.424C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs377767081 | 144 | V>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298770G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298770G>T Locations: - p.Val144Phe (Ensembl:ENST00000545312) - c.430G>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV99313638 rs377767081 | 144 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Population frequencies: - MAF: 0.000008065 (gnomAD) Accession: NC_000012.12:g.94298770G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298770G>A Locations: - p.V144I (NCI-TCGA:ENST00000545312) - p.Val144Ile (Ensembl:ENST00000545312) - c.430G>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs377767081 | 144 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298770G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298770G>C Locations: - p.Val144Leu (Ensembl:ENST00000545312) - c.430G>C (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs189549726 | 145 | V>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.684) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000012.12:g.94298773G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298773G>A Locations: - p.Val145Ile (Ensembl:ENST00000545312) - c.433G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313706 | 145 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298773G>C Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298773G>C Locations: - p.V145L (NCI-TCGA:ENST00000545312) - p.Val145Leu (cosmic curated:ENST00000545312) - c.433G>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1296359911 | 146 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298776C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298776C>T Locations: - p.His146Tyr (Ensembl:ENST00000545312) - c.436C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51572416 COSV99314088 | 148 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298784G>A, NC_000012.12:g.94298783G>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298784G>A, NC_000012.12:g.94298783G>A Locations: - p.W148* (NCI-TCGA:ENST00000545312) - p.Trp148Ter (cosmic curated:ENST00000545312) - c.444G>A (cosmic curated:ENST00000545312) - c.443G>A (cosmic curated:ENST00000545312) Source type: large scale study | |||||||
rs1593000465 | 149 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94298785A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94298785A>C Locations: - p.Lys149Gln (Ensembl:ENST00000545312) - c.445A>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51573036 | 151 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298792A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94298792A>G Locations: - p.Asn151Ser (cosmic curated:ENST00000545312) - c.452A>G (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313148 | 152 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298795G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94298795G>T Locations: - p.Ser152Ile (cosmic curated:ENST00000545312) - c.455G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51575479 | 152 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94298795G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94298795G>A Locations: - p.Ser152Asn (cosmic curated:ENST00000545312) - c.455G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99312497 | 154 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94300915C>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300915C>A Locations: - p.P154H (NCI-TCGA:ENST00000545312) - p.Pro154His (cosmic curated:ENST00000545312) - c.461C>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51581506 | 155 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94300917C>T Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300917C>T Locations: - p.L155F (NCI-TCGA:ENST00000545312) - p.Leu155Phe (cosmic curated:ENST00000545312) - c.463C>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1239889645 | 155 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94300918T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300918T>C Locations: - p.Leu155Pro (Ensembl:ENST00000545312) - c.464T>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs747506006 | 156 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94300920C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300920C>T Locations: - p.Arg156Cys (Ensembl:ENST00000545312) - c.466C>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs755505068 | 156 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000003992 (gnomAD) Accession: NC_000012.12:g.94300921G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300921G>A Locations: - p.R156H (NCI-TCGA:ENST00000545312) - p.Arg156His (Ensembl:ENST00000545312) - c.467G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs781592014 | 159 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000012.12:g.94300929G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300929G>A Locations: - p.Val159Ile (Ensembl:ENST00000545312) - c.475G>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs748512190 | 162 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94300938C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300938C>G Locations: - p.Leu162Val (Ensembl:ENST00000545312) - c.484C>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1163947191 | 164 | N>K | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94300946C>G, NC_000012.12:g.94300946C>A Codon: CCC/GCC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300946C>G, NC_000012.12:g.94300946C>A Locations: - p.Asn164Lys (Ensembl:ENST00000545312) - c.492C>G (Ensembl:ENST00000545312) - c.492C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1369014770 | 165 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94300948C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300948C>T Locations: - p.Pro165Leu (Ensembl:ENST00000545312) - c.494C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313100 rs1418861442 | 165 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003986 (gnomAD) Accession: NC_000012.12:g.94300947C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300947C>T Locations: - p.P165S (NCI-TCGA:ENST00000545312) - p.Pro165Ser (Ensembl:ENST00000545312) - c.493C>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1464081586 | 171 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000012.12:g.94300965A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300965A>G Locations: - p.Ile171Val (Ensembl:ENST00000545312) - c.511A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs749525873 | 173 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94300972A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300972A>G Locations: - p.Lys173Arg (Ensembl:ENST00000545312) - c.518A>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs749525873 | 173 | K>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94300972A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300972A>C Locations: - p.Lys173Thr (Ensembl:ENST00000545312) - c.518A>C (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs917910951 | 176 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000012.12:g.94300980C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300980C>A Locations: - p.His176Asn (Ensembl:ENST00000545312) - c.526C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51576377 rs776462415 | 179 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.26) Somatic: Yes Population frequencies: - MAF: 0.00001195 (gnomAD) Accession: NC_000012.12:g.94300989G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300989G>A Locations: - p.G179S (NCI-TCGA:ENST00000545312) - p.Gly179Ser (Ensembl:ENST00000545312) - c.535G>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1316683657 | 180 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94300993G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300993G>C Locations: - p.Cys180Ser (Ensembl:ENST00000545312) - c.539G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1449730703 | 182 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.94300999C>G Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94300999C>G Locations: - p.Ser182Ter (Ensembl:ENST00000545312) - c.545C>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1316787959 | 189 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94301019A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94301019A>G Locations: - p.Met189Val (Ensembl:ENST00000545312) - c.565A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313415 | 191 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94301025G>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94301025G>A Locations: - p.A191T (NCI-TCGA:ENST00000545312) - p.Ala191Thr (cosmic curated:ENST00000545312) - c.571G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968409576 | 192 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94301030T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94301030T>A Locations: - p.Phe192Leu (Ensembl:ENST00000545312) - c.576T>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV104576540 | 193 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94301032C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94301032C>T Locations: - p.Ser193Phe (cosmic curated:ENST00000545312) - c.578C>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs367723378 | 194 | L>P | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94301035T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94301035T>C Locations: - p.Leu194Pro (Ensembl:ENST00000545312) - c.581T>C (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1024270568 | 195 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000012.12:g.94301037A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94301037A>G Locations: - p.Thr195Ala (Ensembl:ENST00000545312) - c.583A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV105101130 | 195 | T>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94301038C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94301038C>A Locations: - p.Thr195Lys (cosmic curated:ENST00000545312) - c.584C>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1024270568 | 195 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000012.12:g.94301037A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94301037A>T Locations: - p.Thr195Ser (Ensembl:ENST00000545312) - c.583A>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51582518 | 196 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94301040G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94301040G>A Locations: - p.Glu196Lys (cosmic curated:ENST00000545312) - c.586G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs969409682 | 196 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94301040G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94301040G>C Locations: - p.Glu196Gln (Ensembl:ENST00000545312) - c.586G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968411455 | 197 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000012.12:g.94301045G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94301045G>T Locations: - p.Gln197His (Ensembl:ENST00000545312) - c.591G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs750007915 | 199 | L>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94301049C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94301049C>A Locations: - p.Leu199Ile (Ensembl:ENST00000545312) - c.595C>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV51569901 | 200 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94301053G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94301053G>A Locations: - p.Gly200Glu (cosmic curated:ENST00000545312) - c.599G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968412019 | 200 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94301052G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94301052G>C Locations: - p.Gly200Arg (Ensembl:ENST00000545312) - c.598G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968724738 | 202 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94303756G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303756G>A Locations: - p.Glu202Lys (Ensembl:ENST00000545312) - c.604G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313118 | 203 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303759G>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303759G>A Locations: - p.A203T (NCI-TCGA:ENST00000545312) - p.Ala203Thr (cosmic curated:ENST00000545312) - c.607G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968725019 | 205 | T>I | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94303766C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303766C>T Locations: - p.Thr205Ile (Ensembl:ENST00000545312) - c.614C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968725019 | 205 | T>N | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94303766C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303766C>A Locations: - p.Thr205Asn (Ensembl:ENST00000545312) - c.614C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs754293608 | 206 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94303770T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303770T>A Locations: - p.Asn206Lys (Ensembl:ENST00000545312) - c.618T>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV51575695 | 210 | Y>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303780T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94303780T>A Locations: - p.Tyr210Asn (cosmic curated:ENST00000545312) - c.628T>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51578368 | 211 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303784C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94303784C>T Locations: - p.Ala211Val (cosmic curated:ENST00000545312) - c.632C>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1441873247 COSV51578887 | 212 | K>N | gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000012.12:g.94303788G>C, NC_000012.12:g.94303788G>T Codon: AAG/AAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303788G>C, NC_000012.12:g.94303788G>T Locations: - p.Lys212Asn (Ensembl:ENST00000545312) - c.636G>C (Ensembl:ENST00000545312) - p.Lys212Asn (cosmic curated:ENST00000545312) - c.636G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968726936 | 213 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94303789G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303789G>A Locations: - p.Asp213Asn (Ensembl:ENST00000545312) - c.637G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV105101114 | 214 | I>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303792A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94303792A>T Locations: - p.Ile214Phe (cosmic curated:ENST00000545312) - c.640A>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs757529377 | 215 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94303796C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303796C>T Locations: - p.Pro215Leu (Ensembl:ENST00000545312) - c.644C>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1565877431 | 215 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.94303795C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303795C>T Locations: - p.Pro215Ser (Ensembl:ENST00000545312) - c.643C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1200677380 | 216 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000012.12:g.94303798A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303798A>G Locations: - p.Thr216Ala (Ensembl:ENST00000545312) - c.646A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313318 | 219 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303807G>T Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303807G>T Locations: - p.E219* (NCI-TCGA:ENST00000545312) - p.Glu219Ter (cosmic curated:ENST00000545312) - c.655G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV105100989 | 219 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303807G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94303807G>A Locations: - p.Glu219Lys (cosmic curated:ENST00000545312) - c.655G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs746130238 | 219 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.593) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000012.12:g.94303807G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303807G>C Locations: - p.Glu219Gln (Ensembl:ENST00000545312) - c.655G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313734 rs143848397 | 220 | E>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303810G>T Codon: GAA/TAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303810G>T Locations: - p.Glu220Ter (Ensembl:ENST00000545312) - c.658G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV105101140 rs143848397 | 220 | E>K | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000012.12:g.94303810G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303810G>A Locations: - p.Glu220Lys (Ensembl:ENST00000545312) - c.658G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51572935 COSV99313734 | 220 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303810G>C Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303810G>C Locations: - p.E220Q (NCI-TCGA:ENST00000545312) - p.Glu220Gln (cosmic curated:ENST00000545312) - c.658G>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs201903968 | 221 | V>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94303814T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303814T>C Locations: - p.Val221Ala (Ensembl:ENST00000545312) - c.662T>C (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1206415321 | 221 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94303813G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303813G>T Locations: - p.Val221Leu (Ensembl:ENST00000545312) - c.661G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs780192296 | 223 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94303820C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303820C>T Locations: - p.Ser223Phe (Ensembl:ENST00000545312) - c.668C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs776396484 | 224 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.94303823dup Codon: TAT/TAAT Consequence type: stop gained Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303823dup Locations: - p.Tyr224Ter (Ensembl:ENST00000545312) - c.671dup (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs748034092 | 225 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.94303827C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303827C>G Locations: - p.Tyr225Ter (Ensembl:ENST00000545312) - c.675C>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1310271251 | 227 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000012.12:g.94303832C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303832C>T Locations: - p.Ala227Val (Ensembl:ENST00000545312) - c.680C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs772973759 | 228 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94303834A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303834A>C Locations: - p.Ile228Leu (Ensembl:ENST00000545312) - c.682A>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs368738985 | 229 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94303837A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303837A>G Locations: - p.Arg229Gly (Ensembl:ENST00000545312) - c.685A>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1357729366 | 231 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000012.12:g.94303845G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303845G>T Locations: - p.Leu231Phe (Ensembl:ENST00000545312) - c.693G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1198592292 | 233 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.94303850C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303850C>T Locations: - p.Pro233Leu (Ensembl:ENST00000545312) - c.698C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1459370881 | 234 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000012.12:g.94303854G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303854G>T Locations: - p.Leu234Phe (Ensembl:ENST00000545312) - c.702G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs773809246 | 235 | S>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.591) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94303855T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303855T>G Locations: - p.Ser235Ala (Ensembl:ENST00000545312) - c.703T>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs1315008954 | 235 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.757) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000012.12:g.94303856C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303856C>T Locations: - p.Ser235Leu (Ensembl:ENST00000545312) - c.704C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs773809246 | 235 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: tolerated - low confidence (0.82) Somatic: No Accession: NC_000012.12:g.94303855T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303855T>A Locations: - p.Ser235Thr (Ensembl:ENST00000545312) - c.703T>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV99313790 | 237 | S>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303861T>G Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303861T>G Locations: - p.S237A (NCI-TCGA:ENST00000545312) - p.Ser237Ala (cosmic curated:ENST00000545312) - c.709T>G (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51573897 | 239 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303869G>T Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303869G>T Locations: - p.M239I (NCI-TCGA:ENST00000545312) - p.Met239Ile (cosmic curated:ENST00000545312) - c.717G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51578004 rs1250871447 | 241 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000004057 (gnomAD) Accession: NC_000012.12:g.94303873G>T Codon: GAA/TAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303873G>T Locations: - p.E241* (NCI-TCGA:ENST00000545312) - p.Glu241Ter (Ensembl:ENST00000545312) - c.721G>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV51581317 | 242 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303877T>G Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303877T>G Locations: - p.F242C (NCI-TCGA:ENST00000545312) - p.Phe242Cys (cosmic curated:ENST00000545312) - c.725T>G (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs766923908 | 242 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94303876T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303876T>G Locations: - p.Phe242Val (Ensembl:ENST00000545312) - c.724T>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs775130513 | 244 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000012.12:g.94303883C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303883C>T Locations: - p.Thr244Ile (Ensembl:ENST00000545312) - c.731C>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV51581802 | 244 | T>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303882A>C Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303882A>C Locations: - p.T244P (NCI-TCGA:ENST00000545312) - p.Thr244Pro (cosmic curated:ENST00000545312) - c.730A>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs775130513 | 244 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.621) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000012.12:g.94303883C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303883C>G Locations: - p.Thr244Ser (Ensembl:ENST00000545312) - c.731C>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs761231417 | 245 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94303886A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303886A>G Locations: - p.Gln245Arg (Ensembl:ENST00000545312) - c.734A>G (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs764746729 | 246 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94303888G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303888G>C Locations: - p.Glu246Gln (Ensembl:ENST00000545312) - c.736G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99312591 | 248 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94303895A>G Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303895A>G Locations: - p.K248R (NCI-TCGA:ENST00000545312) - p.Lys248Arg (cosmic curated:ENST00000545312) - c.743A>G (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968746561 | 252 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94303986A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303986A>G Locations: - p.Asn252Asp (Ensembl:ENST00000545312) - c.754A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51580762 rs1968746962 | 252 | N>S | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000012.12:g.94303987A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303987A>G Locations: - p.Asn252Ser (Ensembl:ENST00000545312) - c.755A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1475252639 | 253 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.94303989G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303989G>T Locations: - p.Glu253Ter (Ensembl:ENST00000545312) - c.757G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1180150457 | 255 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000012.12:g.94303997T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303997T>G Locations: - p.Asn255Lys (Ensembl:ENST00000545312) - c.765T>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1192231774 | 256 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94303998G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303998G>A Locations: - p.Glu256Lys (Ensembl:ENST00000545312) - c.766G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51569923 rs1968748910 | 257 | E>G | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: tolerated - low confidence (0.19) Somatic: Yes Accession: NC_000012.12:g.94304002A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304002A>G Locations: - p.Glu257Gly (Ensembl:ENST00000545312) - c.770A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs139622716 | 257 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_000012.12:g.94304001G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304001G>A Locations: - p.Glu257Lys (Ensembl:ENST00000545312) - c.769G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1467090784 | 259 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94304008C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304008C>T Locations: - p.Ala259Val (Ensembl:ENST00000545312) - c.776C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51578240 | 260 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94304012G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94304012G>C Locations: - p.Leu260Phe (cosmic curated:ENST00000545312) - c.780G>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs893249109 | 261 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000012.12:g.94304014C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304014C>T Locations: - p.Thr261Ile (Ensembl:ENST00000545312) - c.782C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51572323 | 263 | I>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94304019A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94304019A>T Locations: - p.Ile263Phe (cosmic curated:ENST00000545312) - c.787A>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968750705 | 265 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000012.12:g.94304025A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304025A>C Locations: - p.Lys265Gln (Ensembl:ENST00000545312) - c.793A>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1196658975 | 265 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94304026A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304026A>C Locations: - p.Lys265Thr (Ensembl:ENST00000545312) - c.794A>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51584480 | 266 | Y>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94304030C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94304030C>A Locations: - p.Tyr266Ter (cosmic curated:ENST00000545312) - c.798C>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs774262002 | 266 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94304028T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304028T>C Locations: - p.Tyr266His (Ensembl:ENST00000545312) - c.796T>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51579856 | 266 | Y>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94304028T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94304028T>A Locations: - p.Tyr266Asn (cosmic curated:ENST00000545312) - c.796T>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs143293787 | 267 | I>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000012.12:g.94304033C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304033C>G Locations: - p.Ile267Met (Ensembl:ENST00000545312) - c.801C>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1342983582 | 268 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated - low confidence (0.83) Somatic: No Accession: NC_000012.12:g.94304035T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304035T>C Locations: - p.Val268Ala (Ensembl:ENST00000545312) - c.803T>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51569762 rs150282069 | 268 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.29) Somatic: Yes Population frequencies: - MAF: 0.0000123 (gnomAD) Accession: NC_000012.12:g.94304034G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304034G>A Locations: - p.V268I (NCI-TCGA:ENST00000545312) - p.Val268Ile (Ensembl:ENST00000545312) - c.802G>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs2136238290 | 270 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94304041A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304041A>G Locations: - p.Tyr270Cys (Ensembl:ENST00000545312) - c.809A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1321216604 | 270 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94304040T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304040T>C Locations: - p.Tyr270His (Ensembl:ENST00000545312) - c.808T>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs774840536 | 272 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000012.12:g.94304047A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94304047A>G Locations: - p.Asp272Gly (Ensembl:ENST00000545312) - c.815A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968875781 | 275 | L>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000012.12:g.94305184C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305184C>A Locations: - p.Leu275Ile (Ensembl:ENST00000545312) - c.823C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1239003863 | 276 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.96) Somatic: No Accession: NC_000012.12:g.94305188A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305188A>G Locations: - p.Asn276Ser (Ensembl:ENST00000545312) - c.827A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1283385659 | 279 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000012.12:g.94305196G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305196G>A Locations: - p.Glu279Lys (Ensembl:ENST00000545312) - c.835G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1215806699 | 280 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.543) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94305199A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305199A>G Locations: - p.Arg280Gly (Ensembl:ENST00000545312) - c.838A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1565878714 | 280 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000012.12:g.94305200G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305200G>A Locations: - p.Arg280Lys (Ensembl:ENST00000545312) - c.839G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1246111552 | 282 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.94305205C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305205C>T Locations: - p.Arg282Ter (Ensembl:ENST00000545312) - c.844C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs766577937 | 282 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000012.12:g.94305206G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305206G>T Locations: - p.Arg282Leu (Ensembl:ENST00000545312) - c.845G>T (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs766577937 | 282 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000012.12:g.94305206G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305206G>A Locations: - p.Arg282Gln (Ensembl:ENST00000545312) - c.845G>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
COSV105101112 | 283 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94305209-94305210GG>AA Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94305209-94305210GG>AA Locations: - p.Gly283Glu (cosmic curated:ENST00000545312) - c.848_849delinsAA (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs781262518 | 287 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.383) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94305220G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305220G>A Locations: - p.Ala287Thr (Ensembl:ENST00000545312) - c.859G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs2136242277 | 288 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000012.12:g.94305225G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305225G>C Locations: - p.Gln288His (Ensembl:ENST00000545312) - c.864G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV99313313 | 288 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94305223C>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305223C>A Locations: - p.Q288K (NCI-TCGA:ENST00000545312) - p.Gln288Lys (cosmic curated:ENST00000545312) - c.862C>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV105861456 | 290 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94305229C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94305229C>T Locations: - p.Gln290Ter (cosmic curated:ENST00000545312) - c.868C>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1438803334 | 290 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000012.12:g.94305229C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305229C>G Locations: - p.Gln290Glu (Ensembl:ENST00000545312) - c.868C>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1157115670 | 291 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.94305232C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305232C>T Locations: - p.Leu291Phe (Ensembl:ENST00000545312) - c.871C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1331162154 | 293 | H>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.15) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94305239A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305239A>T Locations: - p.His293Leu (Ensembl:ENST00000545312) - c.878A>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1331162154 | 293 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000012.12:g.94305239A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305239A>G Locations: - p.His293Arg (Ensembl:ENST00000545312) - c.878A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968883319 | 293 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000012.12:g.94305238C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305238C>T Locations: - p.His293Tyr (Ensembl:ENST00000545312) - c.877C>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51569581 | 296 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94305247G>A Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305247G>A Locations: - p.V296I (NCI-TCGA:ENST00000545312) - p.Val296Ile (cosmic curated:ENST00000545312) - c.886G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs745723171 | 298 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94305253T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305253T>C Locations: - p.Phe298Leu (Ensembl:ENST00000545312) - c.892T>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1180322532 | 298 | F>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.56) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.94305254T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305254T>A Locations: - p.Phe298Tyr (Ensembl:ENST00000545312) - c.893T>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51569546 | 299 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94305256G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94305256G>A Locations: - p.Asp299Asn (cosmic curated:ENST00000545312) - c.895G>A (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1376666668 | 299 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94305256G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305256G>T Locations: - p.Asp299Tyr (Ensembl:ENST00000545312) - c.895G>T (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968887099 | 301 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000012.12:g.94305263A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305263A>G Locations: - p.Lys301Arg (Ensembl:ENST00000545312) - c.902A>G (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51571121 | 302 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94305267G>T Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305267G>T Locations: - p.K302N (NCI-TCGA:ENST00000545312) - p.Lys302Asn (cosmic curated:ENST00000545312) - c.906G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51570215 | 303 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94305269A>C Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305269A>C Locations: - p.K303T (NCI-TCGA:ENST00000545312) - p.Lys303Thr (cosmic curated:ENST00000545312) - c.908A>C (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1306641603 | 304 | C>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.94305273C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305273C>A Locations: - p.Cys304Ter (Ensembl:ENST00000545312) - c.912C>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs368139262 | 304 | C>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated - low confidence (0.1) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000012.12:g.94305272G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305272G>C Locations: - p.C304S (NCI-TCGA:ENST00000545312) - p.Cys304Ser (Ensembl:ENST00000545312) - c.911G>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs368139262 | 304 | C>Y | 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.94305272G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305272G>A Locations: - p.Cys304Tyr (Ensembl:ENST00000545312) - c.911G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs1968888128 | 306 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.94305278G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305278G>A Locations: - p.Trp306Ter (Ensembl:ENST00000545312) - c.917G>A (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
COSV51577686 | 306 | W>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.94305279G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.94305279G>T Locations: - p.Trp306Cys (cosmic curated:ENST00000545312) - c.918G>T (cosmic curated:ENST00000545312) Source type: large scale study Cross-references: | |||||||
rs372684506 | 307 | M>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000012.12:g.94305282G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305282G>A Locations: - p.Met307Ile (Ensembl:ENST00000545312) - c.921G>A (Ensembl:ENST00000545312) Source type: large scale study | |||||||
rs2136242492 | 308 | *>Y | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NC_000012.12:g.94305285A>C Codon: TAA/TAC Consequence type: stop lost Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94305285A>C Locations: - p.Ter308TyrextTer7 (Ensembl:ENST00000545312) - c.924A>C (Ensembl:ENST00000545312) Source type: large scale study Cross-references: | |||||||
VAR_050602 rs11107500 | 1499 | E>K | UniProt Ensembl dbSNP | ||||
Consequence: missense Somatic: No Accession: NC_000012.12:g.94303864G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q22 Genomic location: NC_000012.12:g.94303864G>A Locations: - p.Glu1499Lys (UniProt:O60486) - p.Glu238Lys (Ensembl:ENST00000545312) - c.712G>A (Ensembl:ENST00000545312) Source type: mixed |