Q86UY6 · NAA40_HUMAN
- ProteinN-alpha-acetyltransferase 40
- GeneNAA40
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids237 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1590746818 | 2 | G>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63939100G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63939100G>T Locations: - p.Gly2Trp (Ensembl:ENST00000377793) - c.4G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1322091549 | 3 | R>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63945841G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945841G>T Locations: - p.Arg3Ile (Ensembl:ENST00000377793) - c.8G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1177168120 | 5 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.63945846T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945846T>A Locations: - p.Ser5Thr (Ensembl:ENST00000377793) - c.13T>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942177481 | 6 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.63945851C>A, NC_000011.10:g.63945851C>G Codon: AGC/AGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945851C>A, NC_000011.10:g.63945851C>G Locations: - p.Ser6Arg (Ensembl:ENST00000377793) - c.18C>A (Ensembl:ENST00000377793) - c.18C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs936318741 | 7 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63945852A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945852A>G Locations: - p.Lys7Glu (Ensembl:ENST00000377793) - c.19A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1431744932 | 8 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000011.10:g.63945856C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945856C>G Locations: - p.Ala8Gly (Ensembl:ENST00000377793) - c.23C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1431744932 | 8 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63945856C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945856C>T Locations: - p.Ala8Val (Ensembl:ENST00000377793) - c.23C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1175932000 | 10 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63945861G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945861G>C Locations: - p.Glu10Gln (Ensembl:ENST00000377793) - c.28G>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs749542610 | 12 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.63945867A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945867A>C Locations: - p.Lys12Gln (Ensembl:ENST00000377793) - c.34A>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1327445722 | 13 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63945870C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945870C>T Locations: - p.Gln13Ter (Ensembl:ENST00000377793) - c.37C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1327445722 | 13 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.63945870C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945870C>A Locations: - p.Gln13Lys (Ensembl:ENST00000377793) - c.37C>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1455833334 | 14 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000011.10:g.63945874A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945874A>G Locations: - p.Lys14Arg (Ensembl:ENST00000377793) - c.41A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58160196 rs755231786 | 15 | R>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000011.10:g.63945877G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945877G>A Locations: - p.Arg15Gln (Ensembl:ENST00000377793) - c.44G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1201621337 | 15 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63945876C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945876C>T Locations: - p.Arg15Trp (Ensembl:ENST00000377793) - c.43C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942178127 | 18 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63945887G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945887G>T Locations: - p.Glu18Asp (Ensembl:ENST00000377793) - c.54G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58160485 rs373742192 | 19 | R>* | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.63945888C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945888C>T Locations: - p.Arg19Ter (Ensembl:ENST00000377793) - c.55C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58160932 | 19 | R>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000011.10:g.63945889G>C Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945889G>C Locations: - c.56G>C (NCI-TCGA:ENST00000377793) - p.R19P (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942178227 | 19 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000011.10:g.63945889G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945889G>A Locations: - p.Arg19Gln (Ensembl:ENST00000377793) - c.56G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1478858087 | 23 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000011.10:g.63945901A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945901A>G Locations: - p.Asp23Gly (Ensembl:ENST00000377793) - c.68A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs748327603 | 23 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000011.10:g.63945900G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945900G>A Locations: - p.Asp23Asn (Ensembl:ENST00000377793) - c.67G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs894275658 | 25 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.63945906G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945906G>A Locations: - p.Val25Ile (Ensembl:ENST00000377793) - c.73G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
TCGA novel | 25-31 | VC>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: inframe deletion Somatic: No Accession: NC_000011.10:g.63945898_63945918del Consequence type: inframe deletion Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945898_63945918del Locations: - c.69_89del (NCI-TCGA:ENST00000377793) - p.V25_A31del (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2134270905 | 26 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000011.10:g.63945909T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945909T>A Locations: - p.Cys26Ser (Ensembl:ENST00000377793) - c.76T>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs556188624 | 27 | A>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.63945912G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945912G>T Locations: - p.Ala27Ser (Ensembl:ENST00000377793) - c.79G>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
TCGA novel | 27 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.63945912G>A Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945912G>A Locations: - c.79G>A (NCI-TCGA:ENST00000377793) - p.A27T (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1339908170 | 28 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.63945915A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945915A>G Locations: - p.Lys28Glu (Ensembl:ENST00000377793) - c.82A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs376434035 | 29 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63945918G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945918G>C Locations: - p.Val29Leu (Ensembl:ENST00000377793) - c.85G>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs376434035 | 29 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63945918G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945918G>A Locations: - p.Val29Met (Ensembl:ENST00000377793) - c.85G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs60725842 | 30 | D>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.63945923C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945923C>G Locations: - p.Asp30Glu (Ensembl:ENST00000377793) - c.90C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942178831 | 30 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63945921G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945921G>C Locations: - p.Asp30His (Ensembl:ENST00000377793) - c.88G>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs149315615 | 31 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63945924G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945924G>A Locations: - p.Ala31Thr (Ensembl:ENST00000377793) - c.91G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1590752695 | 33 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.608) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63945930A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63945930A>C Locations: - p.Asn33His (Ensembl:ENST00000377793) - c.97A>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58161422 rs1261480899 | 36 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000011.10:g.63946955G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946955G>A Locations: - p.G36E (NCI-TCGA:ENST00000377793) - p.Gly36Glu (Ensembl:ENST00000377793) - c.107G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1205579970 | 37 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.783) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63946959C>G, NC_000011.10:g.63946959C>A Codon: GAC/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946959C>G, NC_000011.10:g.63946959C>A Locations: - p.Asp37Glu (Ensembl:ENST00000377793) - c.111C>G (Ensembl:ENST00000377793) - c.111C>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs370163040 | 39 | L>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63946963C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946963C>G Locations: - p.Leu39Val (Ensembl:ENST00000377793) - c.115C>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1942197865 | 41 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.676) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.63946970C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946970C>T Locations: - p.Ala41Val (Ensembl:ENST00000377793) - c.122C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs750995420 | 43 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.63946975C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946975C>G Locations: - p.Pro43Ala (Ensembl:ENST00000377793) - c.127C>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs750995420 | 43 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63946975C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946975C>T Locations: - p.Pro43Ser (Ensembl:ENST00000377793) - c.127C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
COSV58161977 rs1192953616 | 44 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.364) - SIFT: tolerated (0.05) - PolyPhen: benign (0.374) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000011.10:g.63946978G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946978G>A Locations: - p.V44M (NCI-TCGA:ENST00000377793) - p.Val44Met (Ensembl:ENST00000377793) - c.130G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs780441867 | 45 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63946983C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946983C>G Locations: - p.Phe45Leu (Ensembl:ENST00000377793) - c.135C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942198145 | 45 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63946982T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946982T>C Locations: - p.Phe45Ser (Ensembl:ENST00000377793) - c.134T>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs137857294 | 46 | K>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63946984A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946984A>G Locations: - p.Lys46Glu (Ensembl:ENST00000377793) - c.136A>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1942198443 | 49 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63946993G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946993G>T Locations: - p.Asp49Tyr (Ensembl:ENST00000377793) - c.145G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942198551 | 50 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000011.10:g.63946997G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63946997G>A Locations: - p.Arg50Lys (Ensembl:ENST00000377793) - c.149G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942198600 | 51 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63947000A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63947000A>G Locations: - p.Asn51Ser (Ensembl:ENST00000377793) - c.152A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942198771 | 52 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63947003G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63947003G>A Locations: - p.Gly52Glu (Ensembl:ENST00000377793) - c.155G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV100624253 rs769477305 | 52 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000007953 (gnomAD) Accession: NC_000011.10:g.63947002G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63947002G>A Locations: - p.G52R (NCI-TCGA:ENST00000377793) - p.Gly52Arg (Ensembl:ENST00000377793) - c.154G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs143575840 | 54 | N>Y | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63952242A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952242A>T Locations: - p.Asn54Tyr (Ensembl:ENST00000377793) - c.160A>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs114511851 | 56 | S>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.469) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63952249C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952249C>T Locations: - p.Ser56Phe (Ensembl:ENST00000377793) - c.167C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942291407 | 57 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952252T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952252T>C Locations: - p.Ile57Thr (Ensembl:ENST00000377793) - c.170T>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs774325813 | 61 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63952263C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952263C>T Locations: - p.Arg61Ter (Ensembl:ENST00000377793) - c.181C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
COSV100624231 COSV100624231,COSV58160920 COSV58160920 | 61 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.396) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.63952263C>G Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952263C>G Locations: - c.181C>G (NCI-TCGA:ENST00000377793) - p.R61G (NCI-TCGA:ENST00000377793) Source type: large scale study | |||||||
rs762104240 | 61 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63952264G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952264G>A Locations: - p.Arg61Gln (Ensembl:ENST00000377793) - c.182G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs767908187 | 63 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952270C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952270C>T Locations: - p.Ser63Phe (Ensembl:ENST00000377793) - c.188C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs372608441 | 63 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000011.10:g.63952269T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952269T>A Locations: - p.Ser63Thr (Ensembl:ENST00000377793) - c.187T>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs373094589 | 64 | G>E | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000011.10:g.63952273G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952273G>A Locations: - p.Gly64Glu (Ensembl:ENST00000377793) - c.191G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs373094589 | 64 | G>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63952273G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952273G>T Locations: - p.Gly64Val (Ensembl:ENST00000377793) - c.191G>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs2134279332 | 67 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.63952281C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952281C>G Locations: - p.Pro67Ala (Ensembl:ENST00000377793) - c.199C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942292144 | 68 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000011.10:g.63952284G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952284G>T Locations: - p.Ala68Ser (Ensembl:ENST00000377793) - c.202G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs766861827 | 68 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.63952285C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952285C>T Locations: - p.Ala68Val (Ensembl:ENST00000377793) - c.203C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs754334090 | 69 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.63952288C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952288C>T Locations: - p.Thr69Ile (Ensembl:ENST00000377793) - c.206C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs754334090 | 69 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.63952288C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952288C>G Locations: - p.Thr69Ser (Ensembl:ENST00000377793) - c.206C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs150657969 | 70 | V>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.63952290G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952290G>A Locations: - p.Val70Met (Ensembl:ENST00000377793) - c.208G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs756901436 | 71 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63952293G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952293G>C Locations: - p.Asp71His (Ensembl:ENST00000377793) - c.211G>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942292579 | 71 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952294A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952294A>T Locations: - p.Asp71Val (Ensembl:ENST00000377793) - c.212A>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs756901436 | 71 | D>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952293G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952293G>T Locations: - p.Asp71Tyr (Ensembl:ENST00000377793) - c.211G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs139995667 | 72 | W>* | ESP TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63952297G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952297G>A Locations: - p.Trp72Ter (Ensembl:ENST00000377793) - c.215G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs139995667 | 72 | W>L | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.798) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952297G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952297G>T Locations: - p.Trp72Leu (Ensembl:ENST00000377793) - c.215G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV108162678 rs1337755325 | 72 | W>R | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.63952296T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952296T>C Locations: - p.Trp72Arg (Ensembl:ENST00000377793) - c.214T>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs745329285 | 75 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000011.10:g.63952305G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952305G>A Locations: - p.Asp75Asn (Ensembl:ENST00000377793) - c.223G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58161713 rs755598726 | 79 | T>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000011.10:g.63952318C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952318C>T Locations: - p.Thr79Met (Ensembl:ENST00000377793) - c.236C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1207681899 | 81 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952325G>A, NC_000011.10:g.63952325G>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952325G>A, NC_000011.10:g.63952325G>T Locations: - p.Met81Ile (Ensembl:ENST00000377793) - c.243G>A (Ensembl:ENST00000377793) - c.243G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs768685468 | 81 | M>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952324T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952324T>G Locations: - p.Met81Arg (Ensembl:ENST00000377793) - c.242T>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs768685468 | 81 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952324T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952324T>C Locations: - p.Met81Thr (Ensembl:ENST00000377793) - c.242T>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1269639585 | 81 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63952323A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952323A>G Locations: - p.Met81Val (Ensembl:ENST00000377793) - c.241A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1565173413 | 83 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious (0.04) - PolyPhen: benign (0.061) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63952330C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952330C>T Locations: - p.T83I (NCI-TCGA:ENST00000377793) - p.Thr83Ile (Ensembl:ENST00000377793) - c.248C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1565173413 | 83 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000011.10:g.63952330C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952330C>G Locations: - p.Thr83Ser (Ensembl:ENST00000377793) - c.248C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942294601 | 84 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.63952407G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952407G>T Locations: - p.Met84Ile (Ensembl:ENST00000377793) - c.252G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1462480458 | 84 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.63952332A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952332A>T Locations: - p.Met84Leu (Ensembl:ENST00000377793) - c.250A>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942293610 | 84 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63952333T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952333T>C Locations: - p.Met84Thr (Ensembl:ENST00000377793) - c.251T>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1462480458 | 84 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.63952332A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952332A>G Locations: - p.Met84Val (Ensembl:ENST00000377793) - c.250A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs750069556 | 85 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952409A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952409A>G Locations: - p.Tyr85Cys (Ensembl:ENST00000377793) - c.254A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1565173462 | 88 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63952418G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952418G>A Locations: - p.Ser88Asn (Ensembl:ENST00000377793) - c.263G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs34689425 | 88 | S>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.63952419C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952419C>G Locations: - p.Ser88Arg (Ensembl:ENST00000377793) - c.264C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV100624167 rs753444487 | 89 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.388) - SIFT: tolerated (0.32) - PolyPhen: benign (0.383) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000011.10:g.63952420G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952420G>A Locations: - p.E89K (NCI-TCGA:ENST00000377793) - p.Glu89Lys (Ensembl:ENST00000377793) - c.265G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1198457196 | 90 | W>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63952424G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952424G>A Locations: - p.Trp90Ter (Ensembl:ENST00000377793) - c.269G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1198457196 | 90 | W>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952424G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952424G>T Locations: - p.Trp90Leu (Ensembl:ENST00000377793) - c.269G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1204092203 | 90 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952423T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952423T>C Locations: - p.Trp90Arg (Ensembl:ENST00000377793) - c.268T>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
TCGA novel | 92 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952431G>T Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952431G>T Locations: - c.276G>T (NCI-TCGA:ENST00000377793) - p.W92C (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1590758843 | 94 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952435G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952435G>C Locations: - p.Asp94His (Ensembl:ENST00000377793) - c.280G>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58161374 rs1315681097 | 95 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.63952438C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952438C>T Locations: - p.R95* (NCI-TCGA:ENST00000377793) - p.Arg95Ter (Ensembl:ENST00000377793) - c.283C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
COSV100624259 rs780326108 | 95 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: tolerated (0.21) - PolyPhen: possibly damaging (0.774) - SIFT: tolerated (0.08) Somatic: Yes Population frequencies: - MAF: 0.00004374 (gnomAD) Accession: NC_000011.10:g.63952439G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952439G>A Locations: - p.R95Q (NCI-TCGA:ENST00000377793) - p.Arg95Gln (Ensembl:ENST00000377793) - c.284G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
COSV58160552 rs1438286332 | 96 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.628) - SIFT: tolerated (0.23) - PolyPhen: possibly damaging (0.638) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000011.10:g.63952443G>T, NC_000011.10:g.63952443G>C Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952443G>T, NC_000011.10:g.63952443G>C Locations: - c.288G>T (NCI-TCGA:ENST00000377793) - p.E96D (NCI-TCGA:ENST00000377793) - p.Glu96Asp (Ensembl:ENST00000377793) - c.288G>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942295378 | 96 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000011.10:g.63952441G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952441G>A Locations: - p.Glu96Lys (Ensembl:ENST00000377793) - c.286G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58161517 rs749778061 | 98 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.717) - SIFT: tolerated (0.4) - PolyPhen: possibly damaging (0.713) - SIFT: tolerated (0.12) Somatic: Yes Population frequencies: - MAF: 0.00005965 (gnomAD) Accession: NC_000011.10:g.63952448G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952448G>A Locations: - p.R98Q (NCI-TCGA:ENST00000377793) - p.Arg98Gln (Ensembl:ENST00000377793) - c.293G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
COSV58160151 rs778997795 | 98 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.63952447C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952447C>T Locations: - p.Arg98Trp (Ensembl:ENST00000377793) - c.292C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942295653 | 100 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952453G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952453G>A Locations: - p.Glu100Lys (Ensembl:ENST00000377793) - c.298G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942295699 | 101 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63952458G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952458G>T Locations: - p.Met101Ile (Ensembl:ENST00000377793) - c.303G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1242753003 | 102 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.63952459A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952459A>G Locations: - p.Thr102Ala (Ensembl:ENST00000377793) - c.304A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942295808 | 102 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.63952460C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952460C>T Locations: - p.Thr102Ile (Ensembl:ENST00000377793) - c.305C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1242753003 | 102 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.63952459A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952459A>T Locations: - p.Thr102Ser (Ensembl:ENST00000377793) - c.304A>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs772024933 | 105 | R>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63952468C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952468C>T Locations: - p.Arg105Ter (Ensembl:ENST00000377793) - c.313C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58161720 | 105 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000011.10:g.63952469G>A Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952469G>A Locations: - c.314G>A (NCI-TCGA:ENST00000377793) - p.R105Q (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs777751689 | 106 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952472C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952472C>A Locations: - p.Ala106Asp (Ensembl:ENST00000377793) - c.317C>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs777751689 | 106 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.483) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63952472C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952472C>G Locations: - p.Ala106Gly (Ensembl:ENST00000377793) - c.317C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs777751689 | 106 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63952472C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952472C>T Locations: - p.Ala106Val (Ensembl:ENST00000377793) - c.317C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs370123792 | 107 | W>* | ESP ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63952475G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952475G>A Locations: - p.Trp107Ter (Ensembl:ENST00000377793) - c.320G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1253144884 | 109 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.537) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.63952480C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952480C>G Locations: - p.Leu109Val (Ensembl:ENST00000377793) - c.325C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58160155 | 110 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.583) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.63952484T>C Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952484T>C Locations: - c.329T>C (NCI-TCGA:ENST00000377793) - p.I110T (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58161864 rs776573148 | 111 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.816) - SIFT: tolerated (0.1) - PolyPhen: possibly damaging (0.813) - SIFT: tolerated (0.08) Somatic: Yes Population frequencies: - MAF: 0.00001988 (gnomAD) Accession: NC_000011.10:g.63952487C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952487C>T Locations: - p.A111V (NCI-TCGA:ENST00000377793) - p.Ala111Val (Ensembl:ENST00000377793) - c.332C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs199970608 | 113 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63952492G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952492G>T Locations: - p.Glu113Ter (Ensembl:ENST00000377793) - c.337G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58160874 | 113 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: tolerated (0.29) Somatic: Yes Accession: NC_000011.10:g.63952493A>G Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952493A>G Locations: - c.338A>G (NCI-TCGA:ENST00000377793) - p.E113G (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1342767574 | 115 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.63952499G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952499G>C Locations: - p.Ser115Thr (Ensembl:ENST00000377793) - c.344G>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
TCGA novel | 117 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.8) Somatic: No Accession: NC_000011.10:g.63952505T>C Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952505T>C Locations: - c.350T>C (NCI-TCGA:ENST00000377793) - p.V117A (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV58161922 rs144329089 | 117 | V>I | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000011.10:g.63952504G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952504G>A Locations: - p.Val117Ile (Ensembl:ENST00000377793) - c.349G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942296559 | 118 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.63952508C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952508C>T Locations: - p.Pro118Leu (Ensembl:ENST00000377793) - c.353C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs201680695 | 123 | H>Y | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952522C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952522C>T Locations: - p.His123Tyr (Ensembl:ENST00000377793) - c.367C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1462963458 | 124 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952527C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952527C>G Locations: - p.Phe124Leu (Ensembl:ENST00000377793) - c.372C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1274067850 | 125 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.07) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000011.10:g.63952529G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952529G>A Locations: - p.R125Q (NCI-TCGA:ENST00000377793) - p.Arg125Gln (Ensembl:ENST00000377793) - c.374G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
COSV58161407 rs1942296808 | 125 | R>W | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.63952528C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952528C>T Locations: - p.Arg125Trp (Ensembl:ENST00000377793) - c.373C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs146570124 | 128 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000011.10:g.63952537G>C, NC_000011.10:g.63952537G>T Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952537G>C, NC_000011.10:g.63952537G>T Locations: - p.Val128Leu (Ensembl:ENST00000377793) - c.382G>C (Ensembl:ENST00000377793) - c.382G>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs146570124 | 128 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000011.10:g.63952537G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952537G>A Locations: - p.Val128Met (Ensembl:ENST00000377793) - c.382G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1942297139 | 129 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.542) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.63952541A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952541A>G Locations: - p.Glu129Gly (Ensembl:ENST00000377793) - c.386A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1223238022 | 129 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952540G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952540G>A Locations: - p.Glu129Lys (Ensembl:ENST00000377793) - c.385G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs754549037 | 130 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.63952544G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952544G>A Locations: - p.Cys130Tyr (Ensembl:ENST00000377793) - c.389G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
TCGA novel | 132 | D>M | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000011.10:g.63952546del Consequence type: frameshift Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952546del Locations: - c.394del (NCI-TCGA:ENST00000377793) - p.D132Mfs*37 (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs560814398 | 132 | D>N | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.63952549G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952549G>A Locations: - p.Asp132Asn (Ensembl:ENST00000377793) - c.394G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
TCGA novel | 135 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63952558C>A Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952558C>A Locations: - c.403C>A (NCI-TCGA:ENST00000377793) - p.L135M (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1039207306 | 136 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63952562A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952562A>G Locations: - p.Tyr136Cys (Ensembl:ENST00000377793) - c.407A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs758407058 | 138 | Y>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.528) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63952758A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952758A>G Locations: - p.Tyr138Cys (Ensembl:ENST00000377793) - c.413A>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs752315084 | 138 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952757T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952757T>C Locations: - p.Tyr138His (Ensembl:ENST00000377793) - c.412T>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs919296255 | 140 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63952763G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952763G>A Locations: - p.Val140Met (Ensembl:ENST00000377793) - c.418G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs567557964 | 144 | S>G | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.63952775A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952775A>G Locations: - p.Ser144Gly (Ensembl:ENST00000377793) - c.430A>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1565173696 | 144 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.63952776G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952776G>A Locations: - p.Ser144Asn (Ensembl:ENST00000377793) - c.431G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs756374397 | 146 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63952781G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952781G>T Locations: - p.Val146Leu (Ensembl:ENST00000377793) - c.436G>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs756374397 | 146 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63952781G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952781G>A Locations: - p.Val146Met (Ensembl:ENST00000377793) - c.436G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs912117274 | 147 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.686) - SIFT: tolerated (0.2) - PolyPhen: possibly damaging (0.681) - SIFT: tolerated (0.39) Somatic: No Population frequencies: - MAF: 0.000007953 (gnomAD) Accession: NC_000011.10:g.63952785G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952785G>A Locations: - p.R147Q (NCI-TCGA:ENST00000377793) - p.Arg147Gln (Ensembl:ENST00000377793) - c.440G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58160937 rs536599515 | 147 | R>W | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.63952784C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952784C>T Locations: - p.Arg147Trp (Ensembl:ENST00000377793) - c.439C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs768976192 | 148 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63952787C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952787C>G Locations: - p.Arg148Gly (Ensembl:ENST00000377793) - c.442C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV105240709 rs774934152 | 148 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.63952788G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952788G>A Locations: - p.Arg148Gln (Ensembl:ENST00000377793) - c.443G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58161786 rs768976192 | 148 | R>W | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.63952787C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952787C>T Locations: - p.Arg148Trp (Ensembl:ENST00000377793) - c.442C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs748412023 | 149 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000011.10:g.63952791A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952791A>G Locations: - p.Lys149Arg (Ensembl:ENST00000377793) - c.446A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs373255470 | 150 | G>D | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952794G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952794G>A Locations: - p.Gly150Asp (Ensembl:ENST00000377793) - c.449G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
TCGA novel | 151 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952797T>G Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952797T>G Locations: - c.452T>G (NCI-TCGA:ENST00000377793) - p.L151R (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1942302443 | 153 | K>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63952803A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952803A>C Locations: - p.Lys153Thr (Ensembl:ENST00000377793) - c.458A>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942302545 | 155 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63952808C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952808C>T Locations: - p.Leu155Phe (Ensembl:ENST00000377793) - c.463C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs943551499 | 155 | L>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952809T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952809T>A Locations: - p.Leu155His (Ensembl:ENST00000377793) - c.464T>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1303962112 | 156 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000011.10:g.63952811A>C Codon: ATA/CTA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952811A>C Locations: - p.Ile156Leu (Ensembl:ENST00000377793) - c.466A>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1382031144 | 156 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.63952813A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952813A>G Locations: - p.Ile156Met (Ensembl:ENST00000377793) - c.468A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs765051375 | 156 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63952812T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952812T>C Locations: - p.Ile156Thr (Ensembl:ENST00000377793) - c.467T>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942302828 | 158 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000011.10:g.63952817A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952817A>G Locations: - p.Ile158Val (Ensembl:ENST00000377793) - c.472A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV105240724 rs1412291956 | 160 | Q>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.63952823C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952823C>T Locations: - p.Gln160Ter (Ensembl:ENST00000377793) - c.478C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1412291956 | 160 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000011.10:g.63952823C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952823C>G Locations: - p.Gln160Glu (Ensembl:ENST00000377793) - c.478C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs375968599 | 162 | M>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000011.10:g.63952829A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952829A>G Locations: - p.Met162Val (Ensembl:ENST00000377793) - c.484A>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs7111805 | 163 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63952833C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952833C>G Locations: - p.Ala163Gly (Ensembl:ENST00000377793) - c.488C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV100624149 rs7111805 | 163 | A>V | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.63952833C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952833C>T Locations: - p.Ala163Val (Ensembl:ENST00000377793) - c.488C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs763892928 | 164 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000011.10:g.63952836A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952836A>G Locations: - p.Asn164Ser (Ensembl:ENST00000377793) - c.491A>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1942303217 | 165 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.63952839G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63952839G>A Locations: - p.Ser165Asn (Ensembl:ENST00000377793) - c.494G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58160973 rs775307695 | 166 | T>A | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.19) Somatic: Yes Accession: NC_000011.10:g.63953973A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63953973A>G Locations: - p.Thr166Ala (Ensembl:ENST00000377793) - c.496A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1307671139 | 166 | T>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63953974C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63953974C>G Locations: - p.Thr166Arg (Ensembl:ENST00000377793) - c.497C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs997878231 | 167 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.63953977A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63953977A>G Locations: - p.Gln167Arg (Ensembl:ENST00000377793) - c.500A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1590760431 | 168 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.309) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63953979A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63953979A>G Locations: - p.Met168Val (Ensembl:ENST00000377793) - c.502A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
TCGA novel | 170 | K>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000011.10:g.63953981_63953982insAA Consequence type: frameshift Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63953981_63953982insAA Locations: - c.505_506dup (NCI-TCGA:ENST00000377793) - p.K170Rfs*5 (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs143141241 | 171 | V>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63953988G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63953988G>T Locations: - p.Val171Phe (Ensembl:ENST00000377793) - c.511G>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs143141241 | 171 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.268) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63953988G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63953988G>C Locations: - p.Val171Leu (Ensembl:ENST00000377793) - c.511G>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs148236659 | 172 | M>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.63953993G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63953993G>T Locations: - p.Met172Ile (Ensembl:ENST00000377793) - c.516G>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs773778743 | 175 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.306) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.63954000G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954000G>A Locations: - p.Val175Ile (Ensembl:ENST00000377793) - c.523G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1277312432 | 178 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.63954010A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954010A>G Locations: - p.His178Arg (Ensembl:ENST00000377793) - c.533A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1483760019 | 179 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.409) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63954012A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954012A>G Locations: - p.Asn179Asp (Ensembl:ENST00000377793) - c.535A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs767418291 | 179 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.19) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63954013A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954013A>G Locations: - p.Asn179Ser (Ensembl:ENST00000377793) - c.536A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1304019078 | 180 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000011.10:g.63954016A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954016A>G Locations: - p.His180Arg (Ensembl:ENST00000377793) - c.539A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs750149560 | 183 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.758) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.63954025A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954025A>G Locations: - p.Tyr183Cys (Ensembl:ENST00000377793) - c.548A>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1942323342 | 184 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.295) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63954028A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954028A>C Locations: - p.Gln184Pro (Ensembl:ENST00000377793) - c.551A>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58160823 rs1265078155 | 185 | F>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000011.10:g.63954030T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954030T>C Locations: - p.Phe185Leu (Ensembl:ENST00000377793) - c.553T>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
COSV100624245 rs755195628 | 189 | A>V | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000011.10:g.63954043C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954043C>T Locations: - p.Ala189Val (Ensembl:ENST00000377793) - c.566C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs772277342 | 191 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000011.10:g.63954049A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954049A>G Locations: - p.Gln191Arg (Ensembl:ENST00000377793) - c.572A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs758432103 | 195 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63954349A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954349A>G Locations: - p.Asp195Gly (Ensembl:ENST00000377793) - c.584A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs982753332 | 196 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63954351G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954351G>T Locations: - p.Asp196Tyr (Ensembl:ENST00000377793) - c.586G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs764659048 | 198 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63954358C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954358C>T Locations: - p.Ser198Phe (Ensembl:ENST00000377793) - c.593C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
COSV58162000 | 199 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.841) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000011.10:g.63954361C>T Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954361C>T Locations: - c.596C>T (NCI-TCGA:ENST00000377793) - p.P199L (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1347698427 | 200 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.63954363A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954363A>G Locations: - p.Ser200Gly (Ensembl:ENST00000377793) - c.598A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs752086050 | 200 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63954364G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954364G>T Locations: - p.Ser200Ile (Ensembl:ENST00000377793) - c.599G>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs752086050 | 200 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.63954364G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954364G>A Locations: - p.Ser200Asn (Ensembl:ENST00000377793) - c.599G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs781676479 | 201 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000011.10:g.63954368G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954368G>A Locations: - p.Met201Ile (Ensembl:ENST00000377793) - c.603G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs757893046 | 201 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000011.10:g.63954366A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954366A>C Locations: - p.Met201Leu (Ensembl:ENST00000377793) - c.601A>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs757893046 | 201 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000011.10:g.63954366A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954366A>G Locations: - p.Met201Val (Ensembl:ENST00000377793) - c.601A>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs746282143 | 202 | S>P | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.729) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000011.10:g.63954369T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954369T>C Locations: - p.Ser202Pro (Ensembl:ENST00000377793) - c.604T>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1229475513 | 202 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000011.10:g.63954370C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954370C>A Locations: - p.Ser202Tyr (Ensembl:ENST00000377793) - c.605C>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs778440778 | 203 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.63954372G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954372G>A Locations: - p.Gly203Ser (Ensembl:ENST00000377793) - c.607G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1208933802 | 204 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.63954376G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954376G>A Locations: - p.Cys204Tyr (Ensembl:ENST00000377793) - c.611G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV100624249 | 205 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.648) - SIFT: tolerated (0.31) Somatic: Yes Accession: NC_000011.10:g.63954379G>T Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954379G>T Locations: - c.614G>T (NCI-TCGA:ENST00000377793) - p.C205F (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942330060 | 205 | C>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.63954380T>G Codon: TGT/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954380T>G Locations: - p.Cys205Trp (Ensembl:ENST00000377793) - c.615T>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs150375641 | 206 | G>W | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63954381G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954381G>T Locations: - p.Gly206Trp (Ensembl:ENST00000377793) - c.616G>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs943887036 | 208 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.63954387G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954387G>T Locations: - p.Asp208Tyr (Ensembl:ENST00000377793) - c.622G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs191585563 | 209 | C>G | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.63954390T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954390T>G Locations: - p.Cys209Gly (Ensembl:ENST00000377793) - c.625T>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs771602567 | 209 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000011.10:g.63954391G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954391G>C Locations: - p.Cys209Ser (Ensembl:ENST00000377793) - c.626G>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs746927542 | 210 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63954394C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954394C>T Locations: - p.Ser210Phe (Ensembl:ENST00000377793) - c.629C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
COSV58161271 | 210 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000011.10:g.63954393T>C Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954393T>C Locations: - c.628T>C (NCI-TCGA:ENST00000377793) - p.S210P (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1381775342 | 211 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63954396T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954396T>C Locations: - p.Tyr211His (Ensembl:ENST00000377793) - c.631T>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs137950058 | 213 | I>N | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63954403T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954403T>A Locations: - p.Ile213Asn (Ensembl:ENST00000377793) - c.638T>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs759261286 | 215 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63954408A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954408A>T Locations: - p.Ser215Cys (Ensembl:ENST00000377793) - c.643A>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs775603500 | 216 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63954412G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954412G>A Locations: - p.Arg216Gln (Ensembl:ENST00000377793) - c.647G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs765448824 | 216 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.634) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63954411C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954411C>T Locations: - p.Arg216Trp (Ensembl:ENST00000377793) - c.646C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs374046097 | 218 | T>I | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.63954418C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954418C>T Locations: - p.Thr218Ile (Ensembl:ENST00000377793) - c.653C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs932094967 | 219 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.63954421A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954421A>G Locations: - p.Lys219Arg (Ensembl:ENST00000377793) - c.656A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942331038 | 220 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000011.10:g.63954425T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954425T>A Locations: - p.Phe220Leu (Ensembl:ENST00000377793) - c.660T>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs751751620 | 222 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.63954431C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954431C>G Locations: - p.Asp222Glu (Ensembl:ENST00000377793) - c.666C>G (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs767917591 | 223 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.63954432A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954432A>G Locations: - p.Ser223Gly (Ensembl:ENST00000377793) - c.667A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58160780 | 223 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000011.10:g.63954433G>T Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954433G>T Locations: - c.668G>T (NCI-TCGA:ENST00000377793) - p.S223I (NCI-TCGA:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs778590122 | 226 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious - low confidence (0.01) - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.000008043 (gnomAD) Accession: NC_000011.10:g.63954442C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954442C>T Locations: - p.S226F (NCI-TCGA:ENST00000377793) - p.Ser226Phe (Ensembl:ENST00000377793) - c.677C>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs367556586 | 227 | H>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.63954446C>A, NC_000011.10:g.63954446C>G Codon: CAC/CAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954446C>A, NC_000011.10:g.63954446C>G Locations: - p.His227Gln (Ensembl:ENST00000377793) - c.681C>A (Ensembl:ENST00000377793) - c.681C>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942331484 | 227 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63954445A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954445A>G Locations: - p.His227Arg (Ensembl:ENST00000377793) - c.680A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58161831 rs371435657 | 228 | A>T | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.5) Somatic: Yes Accession: NC_000011.10:g.63954447G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954447G>A Locations: - p.Ala228Thr (Ensembl:ENST00000377793) - c.682G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV58160907 rs572518128 | 228 | A>V | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000011.10:g.63954448C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954448C>T Locations: - p.Ala228Val (Ensembl:ENST00000377793) - c.683C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs2134282381 | 229 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63954450G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954450G>T Locations: - p.Gly229Cys (Ensembl:ENST00000377793) - c.685G>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1942331874 | 230 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63954454G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954454G>A Locations: - p.Gly230Glu (Ensembl:ENST00000377793) - c.689G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs868032003 | 231 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000011.10:g.63954457A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954457A>C Locations: - p.His231Pro (Ensembl:ENST00000377793) - c.692A>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs868032003 | 231 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.63954457A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954457A>G Locations: - p.His231Arg (Ensembl:ENST00000377793) - c.692A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1565174562 | 232 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63954459T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954459T>C Locations: - p.Cys232Arg (Ensembl:ENST00000377793) - c.694T>C (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs776453438 | 232 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.63954460G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954460G>C Locations: - p.Cys232Ser (Ensembl:ENST00000377793) - c.695G>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs776453438 | 232 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63954460G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954460G>A Locations: - p.Cys232Tyr (Ensembl:ENST00000377793) - c.695G>A (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1483422937 | 233 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.63954462G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954462G>A Locations: - p.Gly233Ser (Ensembl:ENST00000377793) - c.697G>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
COSV100624150 rs745633405 rs745633405,COSV100624150 | 233 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) - PolyPhen: benign (0.133) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000011.10:g.63954463G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954463G>T Locations: - p.G233V (NCI-TCGA:ENST00000377793) - p.Gly233Val (Ensembl:ENST00000377793) - c.698G>T (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs763249709 | 235 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63954469G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954469G>C Locations: - p.Cys235Ser (Ensembl:ENST00000377793) - c.704G>C (Ensembl:ENST00000377793) Source type: large scale study | |||||||
rs1590761026 | 237 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.63954474C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954474C>A Locations: - p.His237Asn (Ensembl:ENST00000377793) - c.709C>A (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1260349695 | 237 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.63954475A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954475A>G Locations: - p.His237Arg (Ensembl:ENST00000377793) - c.710A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1590761026 | 237 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.63954474C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954474C>T Locations: - p.His237Tyr (Ensembl:ENST00000377793) - c.709C>T (Ensembl:ENST00000377793) Source type: large scale study Cross-references: | |||||||
rs1590761032 | 238 | *>W | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NC_000011.10:g.63954479A>G Codon: TGA/TGG Consequence type: stop lost Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63954479A>G Locations: - p.Ter238TrpextTer43 (Ensembl:ENST00000377793) - c.714A>G (Ensembl:ENST00000377793) Source type: large scale study Cross-references: |