P28223 · 5HT2A_HUMAN
- Protein5-hydroxytryptamine receptor 2A
- GeneHTR2A
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids471 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV66326971 rs1951099887 | 2 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0.01) - PolyPhen: benign (0.052) - SIFT: deleterious - low confidence (0.05) Somatic: Yes Accession: NC_000013.11:g.46895903C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895903C>T Locations: - p.D2N (NCI-TCGA:ENST00000542664) - p.Asp2Asn (Ensembl:ENST00000542664) - c.4G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs532924268 | 3 | I>F | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000013.11:g.46895900T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895900T>A Locations: - p.Ile3Phe (Ensembl:ENST00000542664) - c.7A>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 4 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000013.11:g.46895896A>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895896A>C Locations: - c.11T>G (NCI-TCGA:ENST00000542664) - p.L4R (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1307418905 | 5 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000013.11:g.46895893C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895893C>T Locations: - p.Cys5Tyr (Ensembl:ENST00000542664) - c.14G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1418879482 | 6 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000013.11:g.46895890T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895890T>C Locations: - p.Glu6Gly (Ensembl:ENST00000542664) - c.17A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328120 rs748483027 | 6 | E>K | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: tolerated - low confidence (0.18) Somatic: Yes Accession: NC_000013.11:g.46895891C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895891C>T Locations: - p.Glu6Lys (Ensembl:ENST00000542664) - c.16G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 8 | N>K | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000013.11:g.46895883_46895884insT Consequence type: frameshift Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895883_46895884insT Locations: - c.23dup (NCI-TCGA:ENST00000542664) - p.N8Kfs*16 (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1870033849 | 10 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000013.11:g.46895878G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895878G>C Locations: - p.Ser10Cys (Ensembl:ENST00000542664) - c.29C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327199 rs1870033849 | 10 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: deleterious - low confidence (0.01) - PolyPhen: possibly damaging (0.513) - SIFT: tolerated - low confidence (0.16) Somatic: Yes Accession: NC_000013.11:g.46895878G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895878G>T Locations: - p.S10Y (NCI-TCGA:ENST00000542664) - p.Ser10Tyr (Ensembl:ENST00000542664) - c.29C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1951099502 | 11 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000013.11:g.46895874C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895874C>G Locations: - p.Leu11Phe (Ensembl:ENST00000542664) - c.33G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV105932122 rs545813583 | 12 | S>N | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000013.11:g.46895872C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895872C>T Locations: - p.Ser12Asn (Ensembl:ENST00000542664) - c.35G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1266978961 | 13 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000013.11:g.46895869G>C Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895869G>C Locations: - p.Ser13Ter (Ensembl:ENST00000542664) - c.38C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs747855847 | 14 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000013.11:g.46895867T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895867T>C Locations: - p.Thr14Ala (Ensembl:ENST00000542664) - c.40A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs778929461 | 14 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000013.11:g.46895866G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895866G>A Locations: - p.Thr14Ile (Ensembl:ENST00000542664) - c.41C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs754812239 | 15 | T>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000013.11:g.46895863G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895863G>A Locations: - p.Thr15Met (Ensembl:ENST00000542664) - c.44C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 15 | T>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000013.11:g.46895864T>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895864T>A Locations: - c.43A>T (NCI-TCGA:ENST00000542664) - p.T15S (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1757675998 | 16 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000013.11:g.46895860T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895860T>C Locations: - p.Asn16Ser (Ensembl:ENST00000542664) - c.47A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs765936117 | 17 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000013.11:g.46895858A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895858A>T Locations: - p.Ser17Thr (Ensembl:ENST00000542664) - c.49T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs750120780 | 19 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000013.11:g.46895850C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895850C>T Locations: - p.Met19Ile (Ensembl:ENST00000542664) - c.57G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1052540084 | 19 | M>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000013.11:g.46895851A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895851A>T Locations: - p.Met19Lys (Ensembl:ENST00000542664) - c.56T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1052540084 | 19 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000013.11:g.46895851A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895851A>G Locations: - p.Met19Thr (Ensembl:ENST00000542664) - c.56T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs185040200 | 21 | L>I | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.39) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000013.11:g.46895846A>T Codon: TTA/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895846A>T Locations: - p.Leu21Ile (Ensembl:ENST00000542664) - c.61T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs762264146 | 23 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000013.11:g.46895839T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895839T>C Locations: - p.Asp23Gly (Ensembl:ENST00000542664) - c.68A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs774523543 | 24 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000013.11:g.46895837C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895837C>T Locations: - p.Asp24Asn (Ensembl:ENST00000542664) - c.70G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328450 rs1805055 | 25 | T>I | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.26) Somatic: Yes Accession: NC_000013.11:g.46895833G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895833G>A Locations: - p.Thr25Ile (Ensembl:ENST00000542664) - c.74C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
VAR_003448 COSV66327897 rs1805055 | 25 | T>N | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000013.11:g.46895833G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895833G>T Locations: - p.Thr25Asn (UniProt:P28223) Source type: mixed | |||||||
rs1805055 | 25 | T>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000013.11:g.46895833G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895833G>C Locations: - p.Thr25Ser (Ensembl:ENST00000542664) - c.74C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1295715779 | 26 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_000013.11:g.46895830C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895830C>T Locations: - p.Arg26Lys (Ensembl:ENST00000542664) - c.77G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs770043192 | 29 | S>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000013.11:g.46895822T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895822T>C Locations: - p.Ser29Gly (Ensembl:ENST00000542664) - c.85A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1332655388 | 29 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000013.11:g.46895821C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895821C>G Locations: - p.Ser29Thr (Ensembl:ENST00000542664) - c.86G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs745909918 | 30 | N>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000013.11:g.46895819T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895819T>A Locations: - p.Asn30Tyr (Ensembl:ENST00000542664) - c.88A>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1951098415 | 31 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000013.11:g.46895814G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895814G>C Locations: - p.Asp31Glu (Ensembl:ENST00000542664) - c.93C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs777023991 | 31 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000013.11:g.46895816C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895816C>T Locations: - p.Asp31Asn (Ensembl:ENST00000542664) - c.91G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs777023991 | 31 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000013.11:g.46895816C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895816C>A Locations: - p.Asp31Tyr (Ensembl:ENST00000542664) - c.91G>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1414598346 | 32 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000013.11:g.46895813A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895813A>G Locations: - p.Phe32Leu (Ensembl:ENST00000542664) - c.94T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
CA658798137 RCV000615738 RCV001836646 rs6313 | 34 | S>= | Schizophrenia, susceptibility to (ClinVar) | Benign (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: - Somatic: No Population frequencies: - MAF: 0.44129 (ClinVar) Accession: NC_000013.11:g.46895805= Consequence type: - Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895805= Locations: - p.Ser34= (ClinVar:ENST00000542664) Disease association: - Schizophrenia, susceptibility to Source type: large scale study Cross-references: | |||||||
rs1175892869 | 34 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.553) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000013.11:g.46895806G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895806G>T Locations: - p.Ser34Tyr (Ensembl:ENST00000542664) - c.101C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1246186555 | 35 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000013.11:g.46895803C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895803C>G Locations: - p.Gly35Ala (Ensembl:ENST00000542664) - c.104G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV107496224 rs1046592807 | 35 | G>R | cosmic curated 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000013.11:g.46895804C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895804C>T Locations: - p.Gly35Arg (Ensembl:ENST00000542664) - c.103G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs868475357 | 36 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000013.11:g.46895801C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895801C>T Locations: - p.Glu36Lys (Ensembl:ENST00000542664) - c.106G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1175309453 | 37 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000013.11:g.46895797G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895797G>A Locations: - p.Ala37Val (Ensembl:ENST00000542664) - c.110C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1951097896 | 38 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46895795T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895795T>C Locations: - p.Asn38Asp (Ensembl:ENST00000542664) - c.112A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs375024989 | 38 | N>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46895793G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895793G>T Locations: - p.Asn38Lys (Ensembl:ENST00000542664) - c.114C>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1045024958 | 39 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000013.11:g.46895792T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895792T>C Locations: - p.Thr39Ala (Ensembl:ENST00000542664) - c.115A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1951097639 | 39 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000013.11:g.46895791G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895791G>A Locations: - p.Thr39Ile (Ensembl:ENST00000542664) - c.116C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs768489549 | 40 | S>C | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46895788G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895788G>C Locations: - p.Ser40Cys (Ensembl:ENST00000542664) - c.119C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs778501828 | 40 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000013.11:g.46895789A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895789A>T Locations: - p.Ser40Thr (Ensembl:ENST00000542664) - c.118T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096526 | 41 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.5) Somatic: Yes Accession: NC_000013.11:g.46895785T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895785T>C Locations: - c.122A>G (NCI-TCGA:ENST00000542664) - p.D41G (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1459537012 | 43 | F>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000013.11:g.46895780A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895780A>T Locations: - p.Phe43Ile (Ensembl:ENST00000542664) - c.127T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1459537012 | 43 | F>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000013.11:g.46895780A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895780A>C Locations: - p.Phe43Val (Ensembl:ENST00000542664) - c.127T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327242 | 45 | W>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.88) Somatic: Yes Accession: NC_000013.11:g.46895773C>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895773C>A Locations: - c.134G>T (NCI-TCGA:ENST00000542664) - p.W45L (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327752 | 46 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46895771T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895771T>C Locations: - c.136A>G (NCI-TCGA:ENST00000542664) - p.T46A (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs749275506 | 46 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895770G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895770G>A Locations: - p.Thr46Ile (Ensembl:ENST00000542664) - c.137C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs755654778 | 48 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000013.11:g.46895765C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895765C>G Locations: - p.Asp48His (Ensembl:ENST00000542664) - c.142G>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs755654778 | 48 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000013.11:g.46895765C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895765C>T Locations: - p.Asp48Asn (Ensembl:ENST00000542664) - c.142G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1566322981 | 49 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000013.11:g.46895761G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895761G>A Locations: - p.Ser49Phe (Ensembl:ENST00000542664) - c.146C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326961 rs1222375103 | 52 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000013.11:g.46895753G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895753G>A Locations: - p.R52* (NCI-TCGA:ENST00000542664) - p.Arg52Ter (Ensembl:ENST00000542664) - c.154C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1222375103 | 52 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000013.11:g.46895753G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895753G>C Locations: - p.Arg52Gly (Ensembl:ENST00000542664) - c.154C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs572796124 | 52 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000013.11:g.46895752C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895752C>A Locations: - p.Arg52Leu (Ensembl:ENST00000542664) - c.155G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327832 rs572796124 | 52 | R>Q | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000013.11:g.46895752C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895752C>T Locations: - p.Arg52Gln (Ensembl:ENST00000542664) - c.155G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs896284675 | 57 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000013.11:g.46895737C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895737C>A Locations: - p.Cys57Phe (Ensembl:ENST00000542664) - c.170G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1056712633 | 58 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000013.11:g.46895735C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895735C>T Locations: - p.Glu58Lys (Ensembl:ENST00000542664) - c.172G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1403980207 | 59 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000013.11:g.46895731C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895731C>G Locations: - p.Gly59Ala (Ensembl:ENST00000542664) - c.176G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs763386955 | 60 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.71) - PolyPhen: benign (0.001) - SIFT: tolerated (0.7) Somatic: No Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000013.11:g.46895728C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895728C>A Locations: - p.C60F (NCI-TCGA:ENST00000542664) - p.Cys60Phe (Ensembl:ENST00000542664) - c.179G>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs763386955 | 60 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000013.11:g.46895728C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895728C>T Locations: - p.Cys60Tyr (Ensembl:ENST00000542664) - c.179G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 61 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000013.11:g.46895726G>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895726G>A Locations: - c.181C>T (NCI-TCGA:ENST00000542664) - p.L61F (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1593447844 | 61 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000013.11:g.46895726G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895726G>C Locations: - p.Leu61Val (Ensembl:ENST00000542664) - c.181C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327373 rs1157228569 | 63 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.03) - PolyPhen: benign (0.03) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000013.11:g.46895719G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895719G>A Locations: - p.P63L (NCI-TCGA:ENST00000542664) - p.Pro63Leu (Ensembl:ENST00000542664) - c.188C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV106547197 rs779934468 | 64 | S>L | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: Yes Accession: NC_000013.11:g.46895716G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895716G>A Locations: - p.Ser64Leu (Ensembl:ENST00000542664) - c.191C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1170876344 | 64 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000013.11:g.46895717A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895717A>G Locations: - p.Ser64Pro (Ensembl:ENST00000542664) - c.190T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs776790681 | 68 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000013.11:g.46895703T>G Codon: TTA/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895703T>G Locations: - p.Leu68Phe (Ensembl:ENST00000542664) - c.204A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1463932215 | 69 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000013.11:g.46895701A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895701A>C Locations: - p.Leu69Arg (Ensembl:ENST00000542664) - c.206T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1442771238 | 71 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000013.11:g.46895696G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895696G>C Locations: - p.Leu71Val (Ensembl:ENST00000542664) - c.211C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 75 | N>K | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000013.11:g.46895682_46895683insT Consequence type: frameshift Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895682_46895683insT Locations: - c.224dup (NCI-TCGA:ENST00000542664) - p.N75Kfs*46 (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 75 | N>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000013.11:g.46895683del Consequence type: frameshift Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895683del Locations: - c.224del (NCI-TCGA:ENST00000542664) - p.N75Tfs*6 (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs760868845 | 76 | W>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895680C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895680C>A Locations: - p.Trp76Leu (Ensembl:ENST00000542664) - c.227G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs773466572 | 78 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895674G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895674G>A Locations: - p.Ala78Val (Ensembl:ENST00000542664) - c.233C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327600 rs539430264 | 83 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.83) - PolyPhen: benign (0.005) - SIFT: tolerated (0.55) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000013.11:g.46895660C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895660C>T Locations: - p.V83I (NCI-TCGA:ENST00000542664) - p.Val83Ile (Ensembl:ENST00000542664) - c.247G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1364080876 | 87 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000013.11:g.46895648G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895648G>C Locations: - p.Leu87Val (Ensembl:ENST00000542664) - c.259C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096831 | 88 | T>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46895645T>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895645T>G Locations: - c.262A>C (NCI-TCGA:ENST00000542664) - p.T88P (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1951095863 | 91 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895636C>G Codon: GGA/CGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895636C>G Locations: - p.Gly91Arg (Ensembl:ENST00000542664) - c.271G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs745387744 | 93 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46895629A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895629A>G Locations: - p.Ile93Thr (Ensembl:ENST00000542664) - c.278T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1215391625 | 94 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895627G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895627G>A Locations: - p.Leu94Phe (Ensembl:ENST00000542664) - c.280C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
CM157842 COSV66327517 rs780635453 | 95 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000013.11:g.46895624C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895624C>T Locations: - p.V95I (NCI-TCGA:ENST00000542664) - p.Val95Ile (Ensembl:ENST00000542664) - c.283G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: CM157842 | |||||||
COSV101096603 | 96 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46895619G>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895619G>C Locations: - c.288C>G (NCI-TCGA:ENST00000542664) - p.I96M (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs370985207 | 97 | M>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.603) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895617A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895617A>G Locations: - p.Met97Thr (Ensembl:ENST00000542664) - c.290T>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1043732808 | 99 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895611A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895611A>G Locations: - p.Val99Ala (Ensembl:ENST00000542664) - c.296T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096755 | 99 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46895612C>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895612C>G Locations: - c.295G>C (NCI-TCGA:ENST00000542664) - p.V99L (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs868179048 | 100 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46895608G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895608G>A Locations: - p.Ser100Phe (Ensembl:ENST00000542664) - c.299C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1453338877 | 102 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895601C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895601C>G Locations: - p.Glu102Asp (Ensembl:ENST00000542664) - c.306G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326741 rs751219044 | 102 | E>K | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46895603C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895603C>T Locations: - p.Glu102Lys (Ensembl:ENST00000542664) - c.304G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1951095212 | 108 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895585C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895585C>A Locations: - p.Ala108Ser (Ensembl:ENST00000542664) - c.322G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1274149032 | 109 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895582T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895582T>G Locations: - p.Thr109Pro (Ensembl:ENST00000542664) - c.325A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 113 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895570G>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895570G>T Locations: - c.337C>A (NCI-TCGA:ENST00000542664) - p.L113M (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV66328474 rs1951094910 | 118 | I>T | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46895554A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895554A>G Locations: - p.Ile118Thr (Ensembl:ENST00000542664) - c.353T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs765850021 | 118 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (1) Somatic: No Accession: NC_000013.11:g.46895555T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895555T>C Locations: - p.Ile118Val (Ensembl:ENST00000542664) - c.352A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1188200387 | 121 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.696) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895545A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895545A>G Locations: - p.Met121Thr (Ensembl:ENST00000542664) - c.362T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs760051588 | 122 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000013.11:g.46895543G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895543G>T Locations: - p.Leu122Met (Ensembl:ENST00000542664) - c.364C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1219929320 | 123 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895540G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895540G>T Locations: - p.Leu123Met (Ensembl:ENST00000542664) - c.367C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs766423438 | 126 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895531G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895531G>C Locations: - p.Leu126Val (Ensembl:ENST00000542664) - c.376C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1219309188 | 127 | V>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895527A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895527A>T Locations: - p.Val127Asp (Ensembl:ENST00000542664) - c.380T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1264306261 | 127 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46895528C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895528C>T Locations: - p.Val127Ile (Ensembl:ENST00000542664) - c.379G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1951094539 | 128 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895525T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895525T>C Locations: - p.Met128Val (Ensembl:ENST00000542664) - c.382A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1486595409 | 129 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895522G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895522G>C Locations: - p.Pro129Ala (Ensembl:ENST00000542664) - c.385C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1486595409 | 129 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895522G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895522G>A Locations: - p.Pro129Ser (Ensembl:ENST00000542664) - c.385C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs550284437 | 130 | V>M | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000013.11:g.46895519C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895519C>T Locations: - p.Val130Met (Ensembl:ENST00000542664) - c.388G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 131 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46895516A>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895516A>G Locations: - c.391T>C (NCI-TCGA:ENST00000542664) - p.S131P (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1476621961 | 132 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46895512A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895512A>G Locations: - p.Met132Thr (Ensembl:ENST00000542664) - c.395T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1951094172 | 137 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46895497T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895497T>C Locations: - p.Tyr137Cys (Ensembl:ENST00000542664) - c.410A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1246174393 | 138 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46895495C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46895495C>T Locations: - p.Gly138Arg (Ensembl:ENST00000542664) - c.412G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096610 | 138 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46892590C>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892590C>A Locations: - c.413G>T (NCI-TCGA:ENST00000542664) - p.G138V (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1324037908 | 139 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892587T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892587T>C Locations: - p.Tyr139Cys (Ensembl:ENST00000542664) - c.416A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs754348347 | 140 | R>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000013.11:g.46892584C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892584C>T Locations: - p.Arg140Gln (Ensembl:ENST00000542664) - c.419G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs962495795 | 140 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.666) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000013.11:g.46892585G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892585G>A Locations: - p.Arg140Trp (Ensembl:ENST00000542664) - c.418C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1951062583 | 141 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000013.11:g.46892580C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892580C>T Locations: - p.Trp141Ter (Ensembl:ENST00000542664) - c.423G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1330614688 | 141 | W>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892582A>T, NC_000013.11:g.46892582A>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892582A>T, NC_000013.11:g.46892582A>G Locations: - c.421T>A (NCI-TCGA:ENST00000542664) - p.W141R (NCI-TCGA:ENST00000542664) - p.Trp141Arg (Ensembl:ENST00000542664) - c.421T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV66327028 rs2138255797 | 144 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46892572G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892572G>A Locations: - p.P144L (NCI-TCGA:ENST00000542664) - p.Pro144Leu (Ensembl:ENST00000542664) - c.431C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327301 | 144 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46892573G>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892573G>A Locations: - c.430C>T (NCI-TCGA:ENST00000542664) - p.P144S (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1425158265 | 146 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000013.11:g.46892567T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892567T>G Locations: - p.Lys146Gln (Ensembl:ENST00000542664) - c.436A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 149 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892558C>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892558C>T Locations: - c.445G>A (NCI-TCGA:ENST00000542664) - p.A149T (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1453149357 | 150 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892554A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892554A>G Locations: - p.Val150Ala (Ensembl:ENST00000542664) - c.449T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326629 | 151 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000013.11:g.46892550C>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892550C>T Locations: - c.453G>A (NCI-TCGA:ENST00000542664) - p.W151* (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1951062407 | 151 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892552A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892552A>G Locations: - p.Trp151Arg (Ensembl:ENST00000542664) - c.451T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1407993241 | 152 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.416) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000013.11:g.46892549T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892549T>G Locations: - p.Ile152Leu (Ensembl:ENST00000542664) - c.454A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1407993241 | 152 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892549T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892549T>C Locations: - p.Ile152Val (Ensembl:ENST00000542664) - c.454A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1566321460 | 153 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000013.11:g.46892544G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892544G>C Locations: - p.Tyr153Ter (Ensembl:ENST00000542664) - c.459C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs750463163 | 155 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892538G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892538G>C Locations: - p.Asp155Glu (Ensembl:ENST00000542664) - c.465C>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
TCGA novel | 155 | D>N | 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_000013.11:g.46892540C>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892540C>T Locations: - c.463G>A (NCI-TCGA:ENST00000542664) - p.D155N (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1241920940 | 156 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892537C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892537C>A Locations: - p.Val156Leu (Ensembl:ENST00000542664) - c.466G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1241920940 | 156 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892537C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892537C>T Locations: - p.Val156Met (Ensembl:ENST00000542664) - c.466G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1951062220 | 157 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.719) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46892534G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892534G>A Locations: - p.Leu157Phe (Ensembl:ENST00000542664) - c.469C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs941907825 | 158 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000013.11:g.46892531A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892531A>G Locations: - p.Phe158Leu (Ensembl:ENST00000542664) - c.472T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326953 rs2138255710 | 160 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46892524G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892524G>A Locations: - p.T160M (NCI-TCGA:ENST00000542664) - p.Thr160Met (Ensembl:ENST00000542664) - c.479C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327667 | 162 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46892519A>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892519A>G Locations: - c.484T>C (NCI-TCGA:ENST00000542664) - p.S162P (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096617 | 163 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46892515A>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892515A>G Locations: - c.488T>C (NCI-TCGA:ENST00000542664) - p.I163T (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096705 | 164 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46892513T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892513T>C Locations: - c.490A>G (NCI-TCGA:ENST00000542664) - p.M164V (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1593446554 | 165 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892509T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892509T>G Locations: - p.His165Pro (Ensembl:ENST00000542664) - c.494A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326974 rs770851114 | 168 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000013.11:g.46892501C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892501C>T Locations: - p.Ala168Thr (Ensembl:ENST00000542664) - c.502G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328210 rs1201998699 | 170 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000013.11:g.46892494G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892494G>A Locations: - p.S170L (NCI-TCGA:ENST00000542664) - p.Ser170Leu (Ensembl:ENST00000542664) - c.509C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
TCGA novel | 170 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892495A>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892495A>T Locations: - c.508T>A (NCI-TCGA:ENST00000542664) - p.S170T (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV101096609 | 171 | L>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46892491A>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892491A>T Locations: - c.512T>A (NCI-TCGA:ENST00000542664) - p.L171Q (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327005 rs1593446534 | 172 | D>A | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46892488T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892488T>G Locations: - p.Asp172Ala (Ensembl:ENST00000542664) - c.515A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs771701886 | 173 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892486G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892486G>A Locations: - p.Arg173Cys (Ensembl:ENST00000542664) - c.517C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1333799288 | 173 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892485C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892485C>T Locations: - p.Arg173His (Ensembl:ENST00000542664) - c.518G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096643 COSV99059994 rs778682687 | 175 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (1) - PolyPhen: benign (0.025) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000013.11:g.46892480C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892480C>T Locations: - p.V175I (NCI-TCGA:ENST00000542664) - p.Val175Ile (Ensembl:ENST00000542664) - c.523G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs778682687 | 175 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46892480C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892480C>G Locations: - p.Val175Leu (Ensembl:ENST00000542664) - c.523G>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV66327556 rs1334203728 | 176 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46892477C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892477C>T Locations: - p.A176T (NCI-TCGA:ENST00000542664) - p.Ala176Thr (Ensembl:ENST00000542664) - c.526G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1237371930 | 177 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892474T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892474T>G Locations: - p.Ile177Leu (Ensembl:ENST00000542664) - c.529A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1593446516 | 179 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000013.11:g.46892467T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892467T>C Locations: - p.Asn179Ser (Ensembl:ENST00000542664) - c.536A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1168578195 | 180 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892465G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892465G>T Locations: - p.Pro180Thr (Ensembl:ENST00000542664) - c.538C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs377125584 | 181 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892461A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892461A>G Locations: - p.Ile181Thr (Ensembl:ENST00000542664) - c.542T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1566321370 | 182 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46892459G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892459G>T Locations: - p.His182Asn (Ensembl:ENST00000542664) - c.544C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs372673346 | 182 | H>P | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.443) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46892458T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892458T>G Locations: - p.His182Pro (Ensembl:ENST00000542664) - c.545A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 182 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000013.11:g.46892458T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892458T>C Locations: - c.545A>G (NCI-TCGA:ENST00000542664) - p.H182R (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs201406168 | 183 | H>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892455T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892455T>G Locations: - p.His183Pro (Ensembl:ENST00000542664) - c.548A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096762 | 183 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46892454G>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892454G>T Locations: - c.549C>A (NCI-TCGA:ENST00000542664) - p.H183Q (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1951061341 | 184 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.509) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46892452C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892452C>T Locations: - p.Ser184Asn (Ensembl:ENST00000542664) - c.551G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327203 rs1951061309 | 185 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46892450G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892450G>A Locations: - p.R185C (NCI-TCGA:ENST00000542664) - p.Arg185Cys (Ensembl:ENST00000542664) - c.553C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs756580138 | 185 | R>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46892449C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892449C>T Locations: - p.Arg185His (Ensembl:ENST00000542664) - c.554G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV66327196 COSV66327496 | 186 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000013.11:g.46892447A>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892447A>G Locations: - c.556T>C (NCI-TCGA:ENST00000542664) - p.F186L (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326657 | 187 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46892444T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892444T>C Locations: - c.559A>G (NCI-TCGA:ENST00000542664) - p.N187D (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1593446493 | 187 | N>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892443T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892443T>A Locations: - p.Asn187Ile (Ensembl:ENST00000542664) - c.560A>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327238 | 188 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46892440G>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892440G>T Locations: - c.563C>A (NCI-TCGA:ENST00000542664) - p.S188Y (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327018 | 190 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.54) Somatic: Yes Accession: NC_000013.11:g.46892435T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892435T>C Locations: - c.568A>G (NCI-TCGA:ENST00000542664) - p.T190A (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs775763093 | 190 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000013.11:g.46892434G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892434G>C Locations: - p.Thr190Ser (Ensembl:ENST00000542664) - c.569C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs757305952 | 197 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000013.11:g.46892413A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892413A>G Locations: - p.Ile197Thr (Ensembl:ENST00000542664) - c.590T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
VAR_013901 COSV66327836 rs6304 | 197 | I>V | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000013.11:g.46892414T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892414T>C Locations: - p.Ile197Val (UniProt:P28223) Source type: mixed Cross-references: | |||||||
COSV66327025 | 198 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46892410G>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892410G>T Locations: - c.593C>A (NCI-TCGA:ENST00000542664) - p.A198D (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs368857032 | 199 | V>I | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46892408C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892408C>T Locations: - p.Val199Ile (Ensembl:ENST00000542664) - c.595G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs746403605 | 204 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (1) Somatic: No Accession: NC_000013.11:g.46892393C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46892393C>T Locations: - p.Val204Ile (Ensembl:ENST00000542664) - c.610G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs567570031 | 205 | G>V | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (0.18) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000013.11:g.46835639C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835639C>A Locations: - p.Gly205Val (Ensembl:ENST00000542664) - c.614G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1238138714 | 206 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835635T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835635T>C Locations: - p.Ile206Met (Ensembl:ENST00000542664) - c.618A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 208 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000013.11:g.46835629C>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835629C>A Locations: - c.624G>T (NCI-TCGA:ENST00000542664) - p.M208I (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV101096694 | 210 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835623T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835623T>C Locations: - c.630A>G (NCI-TCGA:ENST00000542664) - p.I210M (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1239567673 | 210 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.616) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835624A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835624A>G Locations: - p.Ile210Thr (Ensembl:ENST00000542664) - c.629T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs770042749 | 210 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000013.11:g.46835625T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835625T>C Locations: - p.Ile210Val (Ensembl:ENST00000542664) - c.628A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1487469623 | 211 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835621G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835621G>C Locations: - p.Pro211Arg (Ensembl:ENST00000542664) - c.632C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs907368969 | 212 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835619C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835619C>A Locations: - p.Val212Phe (Ensembl:ENST00000542664) - c.634G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs907368969 | 212 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.467) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000013.11:g.46835619C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835619C>T Locations: - p.Val212Ile (Ensembl:ENST00000542664) - c.634G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs143289722 | 213 | F>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000013.11:g.46835614A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835614A>C Locations: - p.Phe213Leu (Ensembl:ENST00000542664) - c.639T>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
TCGA novel | 213 | F>W | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000013.11:g.46835614_46835615del Consequence type: frameshift Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835614_46835615del Locations: - c.638_639del (NCI-TCGA:ENST00000542664) - p.F213Wfs*10 (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs781643370 | 214 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835612C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835612C>A Locations: - p.Gly214Val (Ensembl:ENST00000542664) - c.641G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs756253920 | 215 | L>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46835610G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835610G>T Locations: - p.Leu215Ile (Ensembl:ENST00000542664) - c.643C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1289458135 | 215 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835609A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835609A>G Locations: - p.Leu215Pro (Ensembl:ENST00000542664) - c.644T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327695 | 216 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.29) Somatic: Yes Accession: NC_000013.11:g.46835605C>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835605C>A Locations: - c.648G>T (NCI-TCGA:ENST00000542664) - p.Q216H (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV104699561 rs751588437 | 218 | D>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000013.11:g.46835601C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835601C>T Locations: - p.Asp218Asn (Ensembl:ENST00000542664) - c.652G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326797 rs1428173433 | 219 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: tolerated (0.08) - PolyPhen: benign (0.415) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000003988 (gnomAD) Accession: NC_000013.11:g.46835597G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835597G>A Locations: - p.S219L (NCI-TCGA:ENST00000542664) - p.Ser219Leu (Ensembl:ENST00000542664) - c.656C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs138155943 | 221 | V>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46835592C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835592C>A Locations: - p.Val221Phe (Ensembl:ENST00000542664) - c.661G>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs138155943 | 221 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000013.11:g.46835592C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835592C>T Locations: - p.Val221Ile (Ensembl:ENST00000542664) - c.661G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs138155943 | 221 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46835592C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835592C>G Locations: - p.Val221Leu (Ensembl:ENST00000542664) - c.661G>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs752855190 | 222 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000013.11:g.46835589A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835589A>G Locations: - p.Phe222Leu (Ensembl:ENST00000542664) - c.664T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1163223359 | 223 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000013.11:g.46835585T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835585T>C Locations: - p.Lys223Arg (Ensembl:ENST00000542664) - c.668A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs868647452 | 224 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000013.11:g.46835583C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835583C>A Locations: - p.Glu224Ter (Ensembl:ENST00000542664) - c.670G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs766250729 | 224 | E>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835582T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835582T>G Locations: - p.Glu224Ala (Ensembl:ENST00000542664) - c.671A>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1566298347 | 224 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000013.11:g.46835581C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835581C>G Locations: - p.Glu224Asp (Ensembl:ENST00000542664) - c.672G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs766250729 | 224 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000013.11:g.46835582T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835582T>C Locations: - p.Glu224Gly (Ensembl:ENST00000542664) - c.671A>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV66326686 rs868647452 | 224 | E>K | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000013.11:g.46835583C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835583C>T Locations: - p.Glu224Lys (Ensembl:ENST00000542664) - c.670G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs766250729 | 224 | E>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835582T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835582T>A Locations: - p.Glu224Val (Ensembl:ENST00000542664) - c.671A>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV66327042 | 225 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.58) Somatic: Yes Accession: NC_000013.11:g.46835579C>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835579C>T Locations: - c.674G>A (NCI-TCGA:ENST00000542664) - p.G225E (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876423828 | 226 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000013.11:g.46835576C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835576C>T Locations: - p.Ser226Asn (Ensembl:ENST00000542664) - c.677G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328125 | 227 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835573C>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835573C>A Locations: - c.680G>T (NCI-TCGA:ENST00000542664) - p.C227F (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1489114037 | 227 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835573C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835573C>T Locations: - p.Cys227Tyr (Ensembl:ENST00000542664) - c.680G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327551 rs147859130 | 230 | A>T | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000013.11:g.46835565C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835565C>T Locations: - p.Ala230Thr (Ensembl:ENST00000542664) - c.688G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV101096552 COSV66328566 | 231 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.241) - SIFT: tolerated (0.52) Somatic: Yes Accession: NC_000013.11:g.46835560A>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835560A>T Locations: - c.693T>A (NCI-TCGA:ENST00000542664) - p.D231E (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327934 rs914903401 | 231 | D>N | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835562C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835562C>T Locations: - p.Asp231Asn (Ensembl:ENST00000542664) - c.691G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328110 COSV66328592 | 232 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.28) Somatic: Yes Accession: NC_000013.11:g.46835559C>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835559C>T Locations: - c.694G>A (NCI-TCGA:ENST00000542664) - p.D232N (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328110 COSV66328592 | 232 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46835559C>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835559C>A Locations: - c.694G>T (NCI-TCGA:ENST00000542664) - p.D232Y (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328595 | 233 | N>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46835555T>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835555T>G Locations: - c.698A>C (NCI-TCGA:ENST00000542664) - p.N233T (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs145933855 | 234 | F>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835552A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835552A>C Locations: - p.Phe234Cys (Ensembl:ENST00000542664) - c.701T>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV101096702 | 234 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835551A>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835551A>C Locations: - c.702T>G (NCI-TCGA:ENST00000542664) - p.F234L (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 234 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835552A>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835552A>G Locations: - c.701T>C (NCI-TCGA:ENST00000542664) - p.F234S (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs762726109 | 235 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000013.11:g.46835550C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835550C>T Locations: - p.Val235Ile (Ensembl:ENST00000542664) - c.703G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1566298314 | 237 | I>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000013.11:g.46835544T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835544T>A Locations: - p.Ile237Phe (Ensembl:ENST00000542664) - c.709A>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328150 rs2138337424 | 238 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835541C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835541C>T Locations: - p.G238S (NCI-TCGA:ENST00000542664) - p.Gly238Ser (Ensembl:ENST00000542664) - c.712G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 239 | S>Y | 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_000013.11:g.46835537G>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835537G>T Locations: - c.716C>A (NCI-TCGA:ENST00000542664) - p.S239Y (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV66327488 | 240 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.41) Somatic: Yes Accession: NC_000013.11:g.46835533A>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835533A>T Locations: - c.720T>A (NCI-TCGA:ENST00000542664) - p.F240L (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs75634836 | 241 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835532C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835532C>A Locations: - p.Val241Leu (Ensembl:ENST00000542664) - c.721G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs75634836 | 241 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.873) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46835532C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835532C>T Locations: - p.Val241Met (Ensembl:ENST00000542664) - c.721G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs747095073 | 245 | I>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835519A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835519A>T Locations: - p.Ile245Asn (Ensembl:ENST00000542664) - c.734T>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs747095073 | 245 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.206) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835519A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835519A>G Locations: - p.Ile245Thr (Ensembl:ENST00000542664) - c.734T>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs866682056 | 246 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835517G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835517G>A Locations: - p.Pro246Ser (Ensembl:ENST00000542664) - c.736C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV105325398 rs1876419777 | 248 | T>I | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.45) Somatic: Yes Accession: NC_000013.11:g.46835510G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835510G>A Locations: - p.Thr248Ile (Ensembl:ENST00000542664) - c.743C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1566298291 | 249 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835507A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835507A>G Locations: - p.Ile249Thr (Ensembl:ENST00000542664) - c.746T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876418917 | 250 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46835503C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835503C>T Locations: - p.Met250Ile (Ensembl:ENST00000542664) - c.750G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1399652132 | 250 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835504A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835504A>G Locations: - p.Met250Thr (Ensembl:ENST00000542664) - c.749T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096868 | 251 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000013.11:g.46835502C>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835502C>T Locations: - c.751G>A (NCI-TCGA:ENST00000542664) - p.V251M (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326760 | 254 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835493A>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835493A>G Locations: - c.760T>C (NCI-TCGA:ENST00000542664) - p.Y254H (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1171632717 | 254 | Y>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835493A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835493A>T Locations: - p.Tyr254Asn (Ensembl:ENST00000542664) - c.760T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs753008959 | 255 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000013.11:g.46835488A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835488A>C Locations: - p.Phe255Leu (Ensembl:ENST00000542664) - c.765T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs755964470 | 258 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.679) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000013.11:g.46835481T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835481T>C Locations: - p.Ile258Val (Ensembl:ENST00000542664) - c.772A>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1456886855 | 260 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000013.11:g.46835475A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835475A>C Locations: - p.Ser260Ala (Ensembl:ENST00000542664) - c.778T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1593424008 | 266 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000013.11:g.46835457T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835457T>C Locations: - p.Thr266Ala (Ensembl:ENST00000542664) - c.796A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876416900 | 266 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.518) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46835456G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835456G>A Locations: - p.Thr266Ile (Ensembl:ENST00000542664) - c.797C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876416740 | 267 | L>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835453A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835453A>C Locations: - p.Leu267Trp (Ensembl:ENST00000542664) - c.800T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1200139033 | 270 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000013.11:g.46835445T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835445T>C Locations: - p.Ser270Gly (Ensembl:ENST00000542664) - c.808A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096800 COSV66326834 | 271 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.409) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000013.11:g.46835442C>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835442C>G Locations: - c.811G>C (NCI-TCGA:ENST00000542664) - p.D271H (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs757334801 | 271 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.496) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46835442C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835442C>A Locations: - p.Asp271Tyr (Ensembl:ENST00000542664) - c.811G>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs751532511 | 274 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000013.11:g.46835432G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835432G>A Locations: - p.Thr274Ile (Ensembl:ENST00000542664) - c.821C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV101096704 rs533383790 | 275 | R>L | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.24) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000013.11:g.46835429C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835429C>A Locations: - p.Arg275Leu (Ensembl:ENST00000542664) - c.824G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs533383790 | 275 | R>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000013.11:g.46835429C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835429C>G Locations: - p.Arg275Pro (Ensembl:ENST00000542664) - c.824G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV104699576 rs533383790 | 275 | R>Q | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000013.11:g.46835429C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835429C>T Locations: - p.Arg275Gln (Ensembl:ENST00000542664) - c.824G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096560 rs762338994 | 275 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835430G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835430G>A Locations: - p.Arg275Trp (Ensembl:ENST00000542664) - c.823C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1023428680 | 276 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000013.11:g.46835426G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835426G>C Locations: - p.Ala276Gly (Ensembl:ENST00000542664) - c.827C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs776914593 | 277 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000013.11:g.46835423T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835423T>C Locations: - p.Lys277Arg (Ensembl:ENST00000542664) - c.830A>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV101096801 | 279 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.39) Somatic: Yes Accession: NC_000013.11:g.46835417G>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835417G>A Locations: - c.836C>T (NCI-TCGA:ENST00000542664) - p.A279V (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876414198 | 280 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46835414G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835414G>C Locations: - p.Ser280Cys (Ensembl:ENST00000542664) - c.839C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs771279570 | 280 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000013.11:g.46835415A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835415A>G Locations: - p.Ser280Pro (Ensembl:ENST00000542664) - c.838T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328584 | 280 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.652) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000013.11:g.46835414G>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835414G>T Locations: - c.839C>A (NCI-TCGA:ENST00000542664) - p.S280Y (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1357593690 | 282 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000013.11:g.46835409T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835409T>C Locations: - p.Ser282Gly (Ensembl:ENST00000542664) - c.844A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs772230929 | 284 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000013.11:g.46835403G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835403G>A Locations: - p.Leu284Phe (Ensembl:ENST00000542664) - c.850C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs772230929 | 284 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000013.11:g.46835403G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835403G>C Locations: - p.Leu284Val (Ensembl:ENST00000542664) - c.850C>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV66326570 rs1876413137 | 285 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: tolerated (0.19) - PolyPhen: possibly damaging (0.454) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000013.11:g.46835400G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835400G>A Locations: - p.P285S (NCI-TCGA:ENST00000542664) - p.Pro285Ser (Ensembl:ENST00000542664) - c.853C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876412955 | 286 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000013.11:g.46835396T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835396T>C Locations: - p.Gln286Arg (Ensembl:ENST00000542664) - c.857A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs748134081 | 287 | S>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000013.11:g.46835394T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835394T>C Locations: - p.Ser287Gly (Ensembl:ENST00000542664) - c.859A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326594 COSV66327249 | 288 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000013.11:g.46835390G>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835390G>C Locations: - c.863C>G (NCI-TCGA:ENST00000542664) - p.S288C (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326673 | 288 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000013.11:g.46835391A>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835391A>G Locations: - c.862T>C (NCI-TCGA:ENST00000542664) - p.S288P (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326594 COSV66327249 | 288 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.472) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835390G>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835390G>T Locations: - c.863C>A (NCI-TCGA:ENST00000542664) - p.S288Y (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs779212618 | 294 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000013.11:g.46835373G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835373G>T Locations: - p.Leu294Ile (Ensembl:ENST00000542664) - c.880C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs755187812 | 294 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000013.11:g.46835372A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835372A>G Locations: - p.Leu294Pro (Ensembl:ENST00000542664) - c.881T>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs755187812 | 294 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000013.11:g.46835372A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835372A>C Locations: - p.Leu294Arg (Ensembl:ENST00000542664) - c.881T>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1439084277 | 295 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000013.11:g.46835370A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835370A>G Locations: - p.Phe295Leu (Ensembl:ENST00000542664) - c.883T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs749521476 | 296 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000013.11:g.46835366T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835366T>C Locations: - p.Gln296Arg (Ensembl:ENST00000542664) - c.887A>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV101096811 rs757096279 | 297 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: tolerated (0.26) - PolyPhen: benign (0.119) - SIFT: tolerated (0.07) Somatic: Yes Population frequencies: - MAF: 0.00001992 (gnomAD) Accession: NC_000013.11:g.46835363C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835363C>T Locations: - p.R297Q (NCI-TCGA:ENST00000542664) - p.Arg297Gln (Ensembl:ENST00000542664) - c.890G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV101096695 rs376305063 | 297 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001992 (gnomAD) Accession: NC_000013.11:g.46835364G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835364G>A Locations: - p.R297W (NCI-TCGA:ENST00000542664) - p.Arg297Trp (Ensembl:ENST00000542664) - c.889C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV66327231 rs1034308865 | 298 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: tolerated (0.14) - PolyPhen: benign (0.106) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.000007967 (gnomAD) Accession: NC_000013.11:g.46835360G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835360G>A Locations: - p.S298L (NCI-TCGA:ENST00000542664) - p.Ser298Leu (Ensembl:ENST00000542664) - c.893C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1034308865 | 298 | S>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835360G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835360G>C Locations: - p.Ser298Trp (Ensembl:ENST00000542664) - c.893C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 299 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000013.11:g.46835358T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835358T>C Locations: - c.895A>G (NCI-TCGA:ENST00000542664) - p.I299V (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1313092116 | 300 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000013.11:g.46835354T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835354T>C Locations: - p.His300Arg (Ensembl:ENST00000542664) - c.899A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326523 rs763899284 | 302 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.47) - PolyPhen: benign (0.043) - SIFT: tolerated (0.21) Somatic: Yes Population frequencies: - MAF: 0.00001195 (gnomAD) Accession: NC_000013.11:g.46835349C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835349C>T Locations: - p.E302K (NCI-TCGA:ENST00000542664) - p.Glu302Lys (Ensembl:ENST00000542664) - c.904G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV101096863 COSV66326853 rs192924120 | 303 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000013.11:g.46835345G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835345G>A Locations: - p.P303L (NCI-TCGA:ENST00000542664) - p.Pro303Leu (Ensembl:ENST00000542664) - c.908C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1416507158 | 303 | P>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000013.11:g.46835346G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835346G>A Locations: - p.Pro303Ser (Ensembl:ENST00000542664) - c.907C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs764945857 | 304 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000013.11:g.46835342C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835342C>T Locations: - p.Gly304Glu (Ensembl:ENST00000542664) - c.911G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs776251555 | 305 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.01) - PolyPhen: benign (0.014) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003983 (gnomAD) Accession: NC_000013.11:g.46835339G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835339G>A Locations: - p.S305F (NCI-TCGA:ENST00000542664) - p.Ser305Phe (Ensembl:ENST00000542664) - c.914C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs760992919 | 306 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000013.11:g.46835335G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835335G>T Locations: - p.Tyr306Ter (Ensembl:ENST00000542664) - c.918C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1041110431 | 307 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000013.11:g.46835334T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835334T>C Locations: - p.Thr307Ala (Ensembl:ENST00000542664) - c.919A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328174 rs773797673 | 307 | T>I | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.45) Somatic: Yes Accession: NC_000013.11:g.46835333G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835333G>A Locations: - p.Thr307Ile (Ensembl:ENST00000542664) - c.920C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs773797673 | 307 | T>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000013.11:g.46835333G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835333G>C Locations: - p.Thr307Arg (Ensembl:ENST00000542664) - c.920C>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV101096887 | 308 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000013.11:g.46835330C>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835330C>G Locations: - c.923G>C (NCI-TCGA:ENST00000542664) - p.G308A (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1006892485 | 309 | R>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835327C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835327C>A Locations: - p.Arg309Met (Ensembl:ENST00000542664) - c.926G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs774363482 | 310 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000013.11:g.46835325T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835325T>C Locations: - p.Arg310Gly (Ensembl:ENST00000542664) - c.928A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs768848048 | 310 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000013.11:g.46835324C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835324C>T Locations: - p.Arg310Lys (Ensembl:ENST00000542664) - c.929G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
TCGA novel | 310 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.689) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46835323C>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835323C>A Locations: - c.930G>T (NCI-TCGA:ENST00000542664) - p.R310S (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs768848048 | 310 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46835324C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835324C>G Locations: - p.Arg310Thr (Ensembl:ENST00000542664) - c.929G>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1203636382 | 312 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000013.11:g.46835317C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835317C>T Locations: - p.Met312Ile (Ensembl:ENST00000542664) - c.936G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs749574714 | 312 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000013.11:g.46835319T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835319T>C Locations: - p.Met312Val (Ensembl:ENST00000542664) - c.934A>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1280758470 | 313 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46835314C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835314C>A Locations: - p.Gln313His (Ensembl:ENST00000542664) - c.939G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1233136299 | 313 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46835316G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835316G>T Locations: - p.Gln313Lys (Ensembl:ENST00000542664) - c.937C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876405250 | 317 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46835303T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835303T>C Locations: - p.Asn317Ser (Ensembl:ENST00000542664) - c.950A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 321 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835292C>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835292C>T Locations: - c.961G>A (NCI-TCGA:ENST00000542664) - p.A321T (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1484050895 | 321 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835291G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835291G>A Locations: - p.Ala321Val (Ensembl:ENST00000542664) - c.962C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs369925691 | 322 | C>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000013.11:g.46835287G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835287G>T Locations: - p.Cys322Ter (Ensembl:ENST00000542664) - c.966C>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV66328320 | 322 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835288C>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835288C>T Locations: - c.965G>A (NCI-TCGA:ENST00000542664) - p.C322Y (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1214835841 | 323 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835286T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835286T>C Locations: - p.Lys323Glu (Ensembl:ENST00000542664) - c.967A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327267 rs1876404089 | 324 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835283C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835283C>T Locations: - p.V324M (NCI-TCGA:ENST00000542664) - p.Val324Met (Ensembl:ENST00000542664) - c.970G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876403922 | 327 | I>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46835274T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835274T>G Locations: - p.Ile327Leu (Ensembl:ENST00000542664) - c.979A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs752673964 | 328 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835271C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835271C>T Locations: - p.Val328Ile (Ensembl:ENST00000542664) - c.982G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs778452148 | 330 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.29) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000013.11:g.46835265A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835265A>G Locations: - p.Phe330Leu (Ensembl:ENST00000542664) - c.988T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1363615193 | 330 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835264A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835264A>G Locations: - p.Phe330Ser (Ensembl:ENST00000542664) - c.989T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1319986191 | 331 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835261A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835261A>G Locations: - p.Leu331Pro (Ensembl:ENST00000542664) - c.992T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs749858096 | 332 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835259A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835259A>G Locations: - p.Phe332Leu (Ensembl:ENST00000542664) - c.994T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs754457998 | 333 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835256C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835256C>T Locations: - p.Val333Met (Ensembl:ENST00000542664) - c.997G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs550284242 | 335 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835250T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835250T>C Locations: - p.Met335Val (Ensembl:ENST00000542664) - c.1003A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328447 | 336 | W>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835247A>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835247A>C Locations: - c.1006T>G (NCI-TCGA:ENST00000542664) - p.W336G (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1469262171 | 338 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835240G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835240G>C Locations: - p.Pro338Arg (Ensembl:ENST00000542664) - c.1013C>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096854 | 338 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835241G>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835241G>T Locations: - c.1012C>A (NCI-TCGA:ENST00000542664) - p.P338T (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs765972863 | 339 | F>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835237A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835237A>C Locations: - p.Phe339Cys (Ensembl:ENST00000542664) - c.1016T>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV66326840 rs765972863 | 339 | F>Y | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835237A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835237A>T Locations: - p.Phe339Tyr (Ensembl:ENST00000542664) - c.1016T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 340 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835235A>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835235A>C Locations: - c.1018T>G (NCI-TCGA:ENST00000542664) - p.F340V (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs761046368 | 344 | I>V | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (1) Somatic: No Accession: NC_000013.11:g.46835223T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835223T>C Locations: - p.Ile344Val (Ensembl:ENST00000542664) - c.1030A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1399126722 | 345 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000013.11:g.46835219A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835219A>G Locations: - p.Met345Thr (Ensembl:ENST00000542664) - c.1034T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096918 rs1876401456 | 346 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.31) - PolyPhen: benign (0.058) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000013.11:g.46835217C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835217C>T Locations: - p.A346T (NCI-TCGA:ENST00000542664) - p.Ala346Thr (Ensembl:ENST00000542664) - c.1036G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 346 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000013.11:g.46835216G>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835216G>A Locations: - c.1037C>T (NCI-TCGA:ENST00000542664) - p.A346V (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV66328429 rs750689390 | 347 | V>I | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835214C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835214C>T Locations: - p.Val347Ile (Ensembl:ENST00000542664) - c.1039G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs767921386 | 348 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000013.11:g.46835211T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835211T>C Locations: - p.Ile348Val (Ensembl:ENST00000542664) - c.1042A>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
TCGA novel | 349 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835207C>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835207C>T Locations: - c.1046G>A (NCI-TCGA:ENST00000542664) - p.C349Y (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs142571649 | 351 | E>G | ESP ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000013.11:g.46835201T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835201T>C Locations: - p.Glu351Gly (Ensembl:ENST00000542664) - c.1052A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096592 | 355 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000013.11:g.46835190C>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835190C>A Locations: - c.1063G>T (NCI-TCGA:ENST00000542664) - p.E355* (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs774903370 | 355 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000013.11:g.46835190C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835190C>T Locations: - p.Glu355Lys (Ensembl:ENST00000542664) - c.1063G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1367343925 | 357 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000013.11:g.46835184C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835184C>T Locations: - p.Val357Ile (Ensembl:ENST00000542664) - c.1069G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs768897319 | 358 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000013.11:g.46835180A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835180A>G Locations: - p.Ile358Thr (Ensembl:ENST00000542664) - c.1073T>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV101096581 COSV66327917 | 359 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.51) Somatic: Yes Accession: NC_000013.11:g.46835177C>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835177C>G Locations: - c.1076G>C (NCI-TCGA:ENST00000542664) - p.G359A (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1420966949 | 359 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000013.11:g.46835177C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835177C>T Locations: - p.Gly359Glu (Ensembl:ENST00000542664) - c.1076G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1488135101 | 360 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000013.11:g.46835175C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835175C>A Locations: - p.Ala360Ser (Ensembl:ENST00000542664) - c.1078G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326590 | 362 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835169G>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835169G>A Locations: - c.1084C>T (NCI-TCGA:ENST00000542664) - p.L362F (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1207403329 | 362 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835168A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835168A>G Locations: - p.Leu362Pro (Ensembl:ENST00000542664) - c.1085T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327719 | 363 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000013.11:g.46835166T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835166T>C Locations: - c.1087A>G (NCI-TCGA:ENST00000542664) - p.N363D (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs376705680 | 363 | N>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000013.11:g.46835164A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835164A>T Locations: - p.Asn363Lys (Ensembl:ENST00000542664) - c.1089T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1334965529 | 364 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835162A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835162A>G Locations: - p.Val364Ala (Ensembl:ENST00000542664) - c.1091T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs2138336763 | 364 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835163C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835163C>T Locations: - p.Val364Met (Ensembl:ENST00000542664) - c.1090G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 365 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835160A>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835160A>C Locations: - c.1093T>G (NCI-TCGA:ENST00000542664) - p.F365V (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1245551395 | 367 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000013.11:g.46835152C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835152C>T Locations: - p.Trp367Ter (Ensembl:ENST00000542664) - c.1101G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326860 rs1245551395 | 367 | W>C | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835152C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835152C>G Locations: - p.Trp367Cys (Ensembl:ENST00000542664) - c.1101G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1337083147 | 368 | I>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835150A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835150A>C Locations: - p.Ile368Ser (Ensembl:ENST00000542664) - c.1103T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876397612 | 369 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835147C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835147C>G Locations: - p.Gly369Ala (Ensembl:ENST00000542664) - c.1106G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326791 rs1876397756 | 369 | G>S | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835148C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835148C>T Locations: - p.Gly369Ser (Ensembl:ENST00000542664) - c.1105G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 369 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835147C>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835147C>A Locations: - c.1106G>T (NCI-TCGA:ENST00000542664) - p.G369V (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV66326900 | 372 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000013.11:g.46835138G>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835138G>T Locations: - c.1115C>A (NCI-TCGA:ENST00000542664) - p.S372Y (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV105325397 rs377018655 | 386 | T>N | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46835096G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835096G>T Locations: - p.Thr386Asn (Ensembl:ENST00000542664) - c.1157C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096736 rs1389863499 | 387 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003992 (gnomAD) Accession: NC_000013.11:g.46835094A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835094A>G Locations: - p.Y387H (NCI-TCGA:ENST00000542664) - p.Tyr387His (Ensembl:ENST00000542664) - c.1159T>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1294072419 | 392 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000013.11:g.46835078G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835078G>A Locations: - p.Ser392Leu (Ensembl:ENST00000542664) - c.1175C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs754511156 | 393 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46835075C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835075C>T Locations: - p.Arg393Gln (Ensembl:ENST00000542664) - c.1178G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1462498007 | 393 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835076G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835076G>A Locations: - p.Arg393Trp (Ensembl:ENST00000542664) - c.1177C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66328236 | 394 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46835073A>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835073A>G Locations: - c.1180T>C (NCI-TCGA:ENST00000542664) - p.Y394H (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 395 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.387) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000013.11:g.46835068A>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835068A>C Locations: - c.1185T>G (NCI-TCGA:ENST00000542664) - p.I395M (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV66327010 | 398 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000013.11:g.46835061G>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835061G>C Locations: - c.1192C>G (NCI-TCGA:ENST00000542664) - p.Q398E (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1425316592 | 399 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000013.11:g.46835056G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835056G>T Locations: - p.Tyr399Ter (Ensembl:ENST00000542664) - c.1197C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1169496638 | 400 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000013.11:g.46835053C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835053C>G Locations: - p.Lys400Asn (Ensembl:ENST00000542664) - c.1200G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs753293644 | 400 | K>Q | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000013.11:g.46835055T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835055T>G Locations: - p.Lys400Gln (Ensembl:ENST00000542664) - c.1198A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1250182685 | 401 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000013.11:g.46835051T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835051T>C Locations: - p.Glu401Gly (Ensembl:ENST00000542664) - c.1202A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327141 rs779691722 | 401 | E>K | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.3) Somatic: Yes Accession: NC_000013.11:g.46835052C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835052C>T Locations: - p.Glu401Lys (Ensembl:ENST00000542664) - c.1201G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs779691722 | 401 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.342) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000013.11:g.46835052C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835052C>G Locations: - p.Glu401Gln (Ensembl:ENST00000542664) - c.1201G>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV107495854 rs1423640595 | 402 | N>K | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.25) Somatic: Yes Accession: NC_000013.11:g.46835047G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835047G>T Locations: - p.Asn402Lys (Ensembl:ENST00000542664) - c.1206C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 402 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000013.11:g.46835048T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835048T>C Locations: - c.1205A>G (NCI-TCGA:ENST00000542664) - p.N402S (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV101096767 rs2138336623 | 403 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious (0.02) - PolyPhen: benign (0.164) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000013.11:g.46835046T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835046T>C Locations: - p.K403E (NCI-TCGA:ENST00000542664) - p.Lys403Glu (Ensembl:ENST00000542664) - c.1207A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327076 | 404 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000013.11:g.46835041T>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835041T>G Locations: - c.1212A>C (NCI-TCGA:ENST00000542664) - p.K404N (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876394196 | 404 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.307) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000013.11:g.46835042T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835042T>G Locations: - p.Lys404Thr (Ensembl:ENST00000542664) - c.1211A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 405 | P>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.313) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835039G>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835039G>T Locations: - c.1214C>A (NCI-TCGA:ENST00000542664) - p.P405Q (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV101096900 COSV104430057 | 405 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000013.11:g.46835040G>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835040G>A Locations: - c.1213C>T (NCI-TCGA:ENST00000542664) - p.P405S (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV104430057 rs187285218 | 405 | P>T | cosmic curated 1000Genomes ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000013.11:g.46835040G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835040G>T Locations: - p.Pro405Thr (Ensembl:ENST00000542664) - c.1213C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs372505805 | 409 | I>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000013.11:g.46835028T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835028T>A Locations: - p.Ile409Phe (Ensembl:ENST00000542664) - c.1225A>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs752143487 | 410 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000013.11:g.46835025A>T Codon: TTA/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835025A>T Locations: - p.Leu410Ile (Ensembl:ENST00000542664) - c.1228T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1469838383 | 411 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46835021A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835021A>C Locations: - p.Val411Gly (Ensembl:ENST00000542664) - c.1232T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876392163 | 414 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000013.11:g.46835011T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835011T>C Locations: - p.Ile414Met (Ensembl:ENST00000542664) - c.1242A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs940553607 | 414 | I>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46835012A>C Codon: ATA/AGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835012A>C Locations: - p.Ile414Arg (Ensembl:ENST00000542664) - c.1241T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876392493 | 414 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000013.11:g.46835013T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835013T>C Locations: - p.Ile414Val (Ensembl:ENST00000542664) - c.1240A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs763140129 | 415 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46835009G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835009G>A Locations: - p.Pro415Leu (Ensembl:ENST00000542664) - c.1244C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV101096910 | 415 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000013.11:g.46835009G>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835009G>C Locations: - c.1244C>G (NCI-TCGA:ENST00000542664) - p.P415R (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs769988053 | 417 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000013.11:g.46835002C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835002C>G Locations: - p.Leu417Phe (Ensembl:ENST00000542664) - c.1251G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs907675185 | 417 | L>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000013.11:g.46835003A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46835003A>G Locations: - p.Leu417Ser (Ensembl:ENST00000542664) - c.1250T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs759732977 | 419 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46834997T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834997T>C Locations: - p.Tyr419Cys (Ensembl:ENST00000542664) - c.1256A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1593423658 | 420 | K>N | Likely benign (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000013.11:g.46834993C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834993C>G Locations: - p.Lys420Asn (Ensembl:ENST00000542664) - c.1260G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1058576 | 421 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46834991G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834991G>A Locations: - p.Ser421Phe (Ensembl:ENST00000542664) - c.1262C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1058576 | 421 | S>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46834991G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834991G>T Locations: - p.Ser421Tyr (Ensembl:ENST00000542664) - c.1262C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs771799117 | 424 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000013.11:g.46834983G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834983G>A Locations: - p.Leu424Phe (Ensembl:ENST00000542664) - c.1270C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1374006392 | 425 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000013.11:g.46834978T>G, NC_000013.11:g.46834978T>A Codon: CAA/CAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834978T>G, NC_000013.11:g.46834978T>A Locations: - p.Gln425His (Ensembl:ENST00000542664) - c.1275A>C (Ensembl:ENST00000542664) - c.1275A>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876390130 | 425 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000013.11:g.46834979T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834979T>C Locations: - p.Gln425Arg (Ensembl:ENST00000542664) - c.1274A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV101096851 | 426 | M>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000013.11:g.46834976A>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834976A>G Locations: - c.1277T>C (NCI-TCGA:ENST00000542664) - p.M426T (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1330143343 | 426 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000013.11:g.46834977T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834977T>C Locations: - p.Met426Val (Ensembl:ENST00000542664) - c.1276A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876389181 | 430 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000013.11:g.46834963C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834963C>G Locations: - p.Lys430Asn (Ensembl:ENST00000542664) - c.1290G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 431 | N>E | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000013.11:g.46834963_46834964insT Consequence type: frameshift Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834963_46834964insT Locations: - c.1289dup (NCI-TCGA:ENST00000542664) - p.N431Efs*11 (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1170479111 | 431 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000013.11:g.46834962T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834962T>G Locations: - p.Asn431His (Ensembl:ENST00000542664) - c.1291A>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 431 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000013.11:g.46834960A>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834960A>T Locations: - c.1293T>A (NCI-TCGA:ENST00000542664) - p.N431K (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV66326812 | 431 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.64) Somatic: Yes Accession: NC_000013.11:g.46834961T>C Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834961T>C Locations: - c.1292A>G (NCI-TCGA:ENST00000542664) - p.N431S (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 432 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000013.11:g.46834958G>T Consequence type: stop gained Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834958G>T Locations: - c.1295C>A (NCI-TCGA:ENST00000542664) - p.S432* (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1876388709 | 432 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000013.11:g.46834958G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834958G>A Locations: - p.Ser432Leu (Ensembl:ENST00000542664) - c.1295C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876388866 | 432 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000013.11:g.46834959A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834959A>G Locations: - p.Ser432Pro (Ensembl:ENST00000542664) - c.1294T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1464800403 | 433 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000013.11:g.46834954C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834954C>A Locations: - p.Lys433Asn (Ensembl:ENST00000542664) - c.1299G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs778840840 | 434 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000013.11:g.46834952T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834952T>C Locations: - p.Gln434Arg (Ensembl:ENST00000542664) - c.1301A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876388073 | 435 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.346) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000013.11:g.46834950C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834950C>G Locations: - p.Asp435His (Ensembl:ENST00000542664) - c.1303G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876388073 | 435 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000013.11:g.46834950C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834950C>T Locations: - p.Asp435Asn (Ensembl:ENST00000542664) - c.1303G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs145449685 | 436 | A>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000013.11:g.46834946G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834946G>T Locations: - p.Ala436Asp (Ensembl:ENST00000542664) - c.1307C>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs145449685 | 436 | A>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000013.11:g.46834946G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834946G>C Locations: - p.Ala436Gly (Ensembl:ENST00000542664) - c.1307C>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1876387773 | 436 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000013.11:g.46834947C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834947C>T Locations: - p.Ala436Thr (Ensembl:ENST00000542664) - c.1306G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs145449685 | 436 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000013.11:g.46834946G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834946G>A Locations: - p.Ala436Val (Ensembl:ENST00000542664) - c.1307C>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1456019953 | 437 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000013.11:g.46834943T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834943T>C Locations: - p.Lys437Arg (Ensembl:ENST00000542664) - c.1310A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1389449316 | 438 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000013.11:g.46834940G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834940G>A Locations: - p.Thr438Ile (Ensembl:ENST00000542664) - c.1313C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1389449316 | 438 | T>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000013.11:g.46834940G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834940G>T Locations: - p.Thr438Lys (Ensembl:ENST00000542664) - c.1313C>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs139754496 | 441 | N>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000013.11:g.46834930A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834930A>T Locations: - p.Asn441Lys (Ensembl:ENST00000542664) - c.1323T>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs199763367 | 442 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000013.11:g.46834928T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834928T>C Locations: - p.Asp442Gly (Ensembl:ENST00000542664) - c.1325A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs779600920 | 443 | C>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000013.11:g.46834926A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834926A>C Locations: - p.Cys443Gly (Ensembl:ENST00000542664) - c.1327T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876385943 | 443 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000013.11:g.46834925C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834925C>T Locations: - p.Cys443Tyr (Ensembl:ENST00000542664) - c.1328G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876385424 | 445 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000013.11:g.46834918C>G Codon: ATG/ATC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834918C>G Locations: - p.Met445Ile (Ensembl:ENST00000542664) - c.1335G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1198961924 | 445 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000013.11:g.46834919A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834919A>G Locations: - p.Met445Thr (Ensembl:ENST00000542664) - c.1334T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs755632356 | 446 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000013.11:g.46834916A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834916A>G Locations: - p.Val446Ala (Ensembl:ENST00000542664) - c.1337T>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs201018904 | 447 | A>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000013.11:g.46834914C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834914C>T Locations: - p.Ala447Thr (Ensembl:ENST00000542664) - c.1339G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
VAR_013902 RCV000959734 RCV003960700 rs6308 | 447 | A>V | HTR2A-related disorder (ClinVar) | Likely benign (Ensembl, ClinVar) | UniProt ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.001 (ClinVar) Accession: NC_000013.11:g.46834913G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834913G>A Locations: - p.Ala447Val (UniProt:P28223) Disease association: - HTR2A-related disorder Source type: mixed Cross-references: | |||||||
COSV66327040 | 449 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000013.11:g.46834907C>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834907C>T Locations: - c.1346G>A (NCI-TCGA:ENST00000542664) - p.G449E (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1876384364 | 449 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.416) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000013.11:g.46834908C>G Codon: GGA/CGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834908C>G Locations: - p.Gly449Arg (Ensembl:ENST00000542664) - c.1345G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs757585313 | 450 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000013.11:g.46834905T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834905T>C Locations: - p.Lys450Glu (Ensembl:ENST00000542664) - c.1348A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs768425509 | 452 | H>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000013.11:g.46834898T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834898T>A Locations: - p.His452Leu (Ensembl:ENST00000542664) - c.1355A>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs768425509 | 452 | H>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000013.11:g.46834898T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834898T>G Locations: - p.His452Pro (Ensembl:ENST00000542664) - c.1355A>C (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs768425509 | 452 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000013.11:g.46834898T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834898T>C Locations: - p.His452Arg (Ensembl:ENST00000542664) - c.1355A>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
VAR_003449 COSV66327120 rs6314 | 452 | H>Y | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000013.11:g.46834899G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834899G>A Locations: - p.His452Tyr (UniProt:P28223) Source type: mixed Cross-references: | |||||||
rs557086481 | 453 | S>C | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000013.11:g.46834895G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834895G>C Locations: - p.Ser453Cys (Ensembl:ENST00000542664) - c.1358C>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV105325393 rs557086481 | 453 | S>F | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.71) Somatic: Yes Accession: NC_000013.11:g.46834895G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834895G>A Locations: - p.Ser453Phe (Ensembl:ENST00000542664) - c.1358C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs753241217 | 453 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000013.11:g.46834896A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834896A>T Locations: - p.Ser453Thr (Ensembl:ENST00000542664) - c.1357T>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66326519 | 454 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000013.11:g.46834893C>A Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834893C>A Locations: - c.1360G>T (NCI-TCGA:ENST00000542664) - p.E454* (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs541770641 | 454 | E>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000013.11:g.46834893C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834893C>G Locations: - p.Glu454Gln (Ensembl:ENST00000542664) - c.1360G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327063 | 455 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: Yes Accession: NC_000013.11:g.46834888C>A, NC_000013.11:g.46834888C>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834888C>A, NC_000013.11:g.46834888C>G Locations: - c.1365G>T (NCI-TCGA:ENST00000542664) - p.E455D (NCI-TCGA:ENST00000542664) - c.1365G>C (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1010455882 | 456 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000013.11:g.46834887C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834887C>G Locations: - p.Ala456Pro (Ensembl:ENST00000542664) - c.1366G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1010455882 | 456 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000013.11:g.46834887C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834887C>A Locations: - p.Ala456Ser (Ensembl:ENST00000542664) - c.1366G>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs1378958837 | 456 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000013.11:g.46834886G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834886G>A Locations: - p.Ala456Val (Ensembl:ENST00000542664) - c.1367C>T (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs766569786 | 460 | N>S | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000013.11:g.46834874T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834874T>C Locations: - p.Asn460Ser (Ensembl:ENST00000542664) - c.1379A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
COSV66327445 | 462 | D>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.58) Somatic: Yes Accession: NC_000013.11:g.46834868T>G Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834868T>G Locations: - c.1385A>C (NCI-TCGA:ENST00000542664) - p.D462A (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs548771552 | 462 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000013.11:g.46834867G>T, NC_000013.11:g.46834867G>C Codon: GAC/GAA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834867G>T, NC_000013.11:g.46834867G>C Locations: - p.Asp462Glu (Ensembl:ENST00000542664) - c.1386C>A (Ensembl:ENST00000542664) - c.1386C>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV66326771 rs774063354 | 462 | D>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.98) Somatic: Yes Accession: NC_000013.11:g.46834869C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834869C>T Locations: - p.Asp462Asn (Ensembl:ENST00000542664) - c.1384G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs774063354 | 462 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000013.11:g.46834869C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834869C>A Locations: - p.Asp462Tyr (Ensembl:ENST00000542664) - c.1384G>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
COSV66326650 COSV66326676 rs749275325 | 463 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.53) - PolyPhen: benign (0.013) - SIFT: tolerated (0.52) Somatic: Yes Population frequencies: - MAF: 0.000007982 (gnomAD) Accession: NC_000013.11:g.46834866C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834866C>T Locations: - p.G463R (NCI-TCGA:ENST00000542664) - p.Gly463Arg (Ensembl:ENST00000542664) - c.1387G>A (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1593423544 | 464 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000013.11:g.46834862A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834862A>C Locations: - p.Val464Gly (Ensembl:ENST00000542664) - c.1391T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs775379459 | 465 | N>D | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000013.11:g.46834860T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834860T>C Locations: - p.Asn465Asp (Ensembl:ENST00000542664) - c.1393A>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs769223465 | 467 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Population frequencies: - MAF: 0.000004002 (gnomAD) Accession: NC_000013.11:g.46834852C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834852C>A Locations: - p.K467N (NCI-TCGA:ENST00000542664) - p.Lys467Asn (Ensembl:ENST00000542664) - c.1401G>T (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1593423534 | 468 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46834850A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834850A>C Locations: - p.Val468Gly (Ensembl:ENST00000542664) - c.1403T>G (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
rs889852055 | 468 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.483) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000013.11:g.46834851C>A, NC_000013.11:g.46834851C>G Codon: GTG/TTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834851C>A, NC_000013.11:g.46834851C>G Locations: - p.Val468Leu (Ensembl:ENST00000542664) - c.1402G>T (Ensembl:ENST00000542664) - c.1402G>C (Ensembl:ENST00000542664) Source type: large scale study Cross-references: | |||||||
TCGA novel | 470 | C>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000013.11:g.46834845A>T Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834845A>T Locations: - c.1408T>A (NCI-TCGA:ENST00000542664) - p.C470S (NCI-TCGA:ENST00000542664) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs780723077 | 470 | C>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.849) - SIFT: deleterious (0) Somatic: No Accession: NC_000013.11:g.46834843A>C Codon: TGT/TGG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834843A>C Locations: - p.Cys470Trp (Ensembl:ENST00000542664) - c.1410T>G (Ensembl:ENST00000542664) Source type: large scale study | |||||||
rs1876379582 | 470 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000013.11:g.46834844C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.46834844C>T Locations: - p.Cys470Tyr (Ensembl:ENST00000542664) - c.1409G>A (Ensembl:ENST00000542664) Source type: large scale study Cross-references: |