O15144 · ARPC2_HUMAN
- ProteinActin-related protein 2/3 complex subunit 2
- GeneARPC2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids300 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV99826833 | 5 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218217483G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218217483G>T Locations: - p.Glu5Ter (cosmic curated:ENST00000315717) - c.13G>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs769461943 | 7 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218217491C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217491C>A Locations: - p.Asn7Lys (Ensembl:ENST00000295685) - c.21C>A (Ensembl:ENST00000295685) - p.Asn7Lys (Ensembl:ENST00000315717) - c.21C>A (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs1226120389 | 8 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.64) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218217494C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217494C>G Locations: - p.Asn8Lys (Ensembl:ENST00000315717) - c.24C>G (Ensembl:ENST00000315717) - p.Asn8Lys (Ensembl:ENST00000295685) - c.24C>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs916136916 | 8 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.399) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218217493A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217493A>G Locations: - p.Asn8Ser (Ensembl:ENST00000315717) - c.23A>G (Ensembl:ENST00000315717) - p.Asn8Ser (Ensembl:ENST00000295685) - c.23A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1457395225 | 9 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218217495C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217495C>G Locations: - p.Arg9Gly (Ensembl:ENST00000315717) - c.25C>G (Ensembl:ENST00000315717) - p.Arg9Gly (Ensembl:ENST00000295685) - c.25C>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1689280252 | 9 | R>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218217496G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217496G>A Locations: - p.Arg9His (Ensembl:ENST00000315717) - c.26G>A (Ensembl:ENST00000315717) - p.Arg9His (Ensembl:ENST00000295685) - c.26G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1279242160 | 11 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000002.12:g.218217501A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217501A>G Locations: - p.Ile11Val (Ensembl:ENST00000295685) - c.31A>G (Ensembl:ENST00000295685) - p.Ile11Val (Ensembl:ENST00000315717) - c.31A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1220933384 | 12 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218217505A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217505A>C Locations: - p.Glu12Ala (Ensembl:ENST00000295685) - c.35A>C (Ensembl:ENST00000295685) - p.Glu12Ala (Ensembl:ENST00000315717) - c.35A>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV99826859 | 12 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.31) Somatic: Yes Accession: NC_000002.12:g.218217504G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217504G>A Locations: - c.34G>A (NCI-TCGA:ENST00000295685) - p.E12K (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV99826925 rs1689280553 | 14 | T>M | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000002.12:g.218217511C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217511C>T Locations: - p.Thr14Met (Ensembl:ENST00000315717) - c.41C>T (Ensembl:ENST00000315717) - p.Thr14Met (Ensembl:ENST00000295685) - c.41C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1689280791 | 16 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.218217517C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217517C>G Locations: - p.Ala16Gly (Ensembl:ENST00000295685) - c.47C>G (Ensembl:ENST00000295685) - p.Ala16Gly (Ensembl:ENST00000315717) - c.47C>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs748804018 | 16 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218217516G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217516G>C Locations: - p.Ala16Pro (Ensembl:ENST00000295685) - c.46G>C (Ensembl:ENST00000295685) - p.Ala16Pro (Ensembl:ENST00000315717) - c.46G>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs748804018 | 16 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218217516G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217516G>A Locations: - p.Ala16Thr (Ensembl:ENST00000295685) - c.46G>A (Ensembl:ENST00000295685) - p.Ala16Thr (Ensembl:ENST00000315717) - c.46G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs769151697 COSV55285957 | 19 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD NCI-TCGA Cosmic cosmic curated | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.07) - PolyPhen: benign (0.003) - SIFT: tolerated (0.19) Somatic: Yes Accession: NC_000002.12:g.218217527C>A, NC_000002.12:g.218217527C>G Codon: TTC/TTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217527C>A, NC_000002.12:g.218217527C>G Locations: - p.Phe19Leu (Ensembl:ENST00000315717) - c.57C>A (Ensembl:ENST00000315717) - p.Phe19Leu (Ensembl:ENST00000295685) - c.57C>A (Ensembl:ENST00000295685) - p.F19L (NCI-TCGA:ENST00000295685) - p.F19L (NCI-TCGA:ENST00000315717) - c.57C>G (Ensembl:ENST00000295685) - c.57C>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs749152588 | 21 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000002.12:g.218217532A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217532A>G Locations: - p.Asn21Ser (Ensembl:ENST00000315717) - c.62A>G (Ensembl:ENST00000315717) - p.Asn21Ser (Ensembl:ENST00000295685) - c.62A>G (Ensembl:ENST00000295685) Source type: large scale study | |||||||
rs1689281259 | 22 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000002.12:g.218217535C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217535C>T Locations: - p.Ala22Val (Ensembl:ENST00000315717) - c.65C>T (Ensembl:ENST00000315717) - p.Ala22Val (Ensembl:ENST00000295685) - c.65C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs762446454 | 23 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000002.12:g.218217537G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217537G>A Locations: - p.Ala23Thr (Ensembl:ENST00000315717) - c.67G>A (Ensembl:ENST00000315717) - p.Ala23Thr (Ensembl:ENST00000295685) - c.67G>A (Ensembl:ENST00000295685) Source type: large scale study | |||||||
rs1464665265 | 24 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000002.12:g.218217540G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217540G>T Locations: - p.Ala24Ser (Ensembl:ENST00000315717) - c.70G>T (Ensembl:ENST00000315717) - p.Ala24Ser (Ensembl:ENST00000295685) - c.70G>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1464665265 | 24 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000002.12:g.218217540G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217540G>A Locations: - p.Ala24Thr (Ensembl:ENST00000315717) - c.70G>A (Ensembl:ENST00000315717) - p.Ala24Thr (Ensembl:ENST00000295685) - c.70G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs371930951 | 24 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.218217541C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217541C>T Locations: - p.Ala24Val (Ensembl:ENST00000315717) - c.71C>T (Ensembl:ENST00000315717) - p.Ala24Val (Ensembl:ENST00000295685) - c.71C>T (Ensembl:ENST00000295685) Source type: large scale study | |||||||
rs890114437 | 25 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218217543G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218217543G>A Locations: - p.Gly25Arg (Ensembl:ENST00000295685) - c.73G>A (Ensembl:ENST00000295685) - p.Gly25Arg (Ensembl:ENST00000315717) - c.73G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55286220 rs200038830 | 28 | 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 (0.015) - SIFT: tolerated (0.05) - PolyPhen: benign (0.009) - SIFT: tolerated (0.21) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000002.12:g.218225928C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218225928C>T Locations: - p.P28L (NCI-TCGA:ENST00000295685) - p.P28L (NCI-TCGA:ENST00000315717) - p.Pro28Leu (Ensembl:ENST00000295685) - c.83C>T (Ensembl:ENST00000295685) - p.Pro28Leu (Ensembl:ENST00000315717) - c.83C>T (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs200038830 | 28 | P>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218225928C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218225928C>A Locations: - p.Pro28Gln (Ensembl:ENST00000315717) - c.83C>A (Ensembl:ENST00000315717) - p.Pro28Gln (Ensembl:ENST00000295685) - c.83C>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs200038830 | 28 | P>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218225928C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218225928C>G Locations: - p.Pro28Arg (Ensembl:ENST00000295685) - c.83C>G (Ensembl:ENST00000295685) - p.Pro28Arg (Ensembl:ENST00000315717) - c.83C>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1176000008 | 31 | V>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000002.12:g.218225936G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218225936G>A Locations: - p.Val31Ile (Ensembl:ENST00000295685) - c.91G>A (Ensembl:ENST00000295685) - p.Val31Ile (Ensembl:ENST00000315717) - c.91G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
TCGA novel | 32 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218225939G>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218225939G>C Locations: - c.94G>C (NCI-TCGA:ENST00000295685) - p.E32Q (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1367278464 | 33 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218225942G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218225942G>T Locations: - p.Val33Leu (Ensembl:ENST00000295685) - c.97G>T (Ensembl:ENST00000295685) - p.Val33Leu (Ensembl:ENST00000315717) - c.97G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs144468778 | 34 | T>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218225946C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218225946C>T Locations: - p.Thr34Ile (Ensembl:ENST00000295685) - c.101C>T (Ensembl:ENST00000295685) - p.Thr34Ile (Ensembl:ENST00000315717) - c.101C>T (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs976121282 | 35 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218225949T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218225949T>G Locations: - p.Phe35Cys (Ensembl:ENST00000295685) - c.104T>G (Ensembl:ENST00000295685) - p.Phe35Cys (Ensembl:ENST00000315717) - c.104T>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs976121282 | 35 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218225949T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218225949T>C Locations: - p.Phe35Ser (Ensembl:ENST00000315717) - c.104T>C (Ensembl:ENST00000315717) - p.Phe35Ser (Ensembl:ENST00000295685) - c.104T>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1318761066 | 37 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218228738A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228738A>G Locations: - p.Asp37Gly (Ensembl:ENST00000315717) - c.110A>G (Ensembl:ENST00000315717) - p.Asp37Gly (Ensembl:ENST00000295685) - c.110A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV104403443 | 38 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218228742C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218228742C>G Locations: - p.Phe38Leu (cosmic curated:ENST00000315717) - c.114C>G (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs977385398 | 39 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.384) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218228743G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228743G>A Locations: - p.Asp39Asn (Ensembl:ENST00000315717) - c.115G>A (Ensembl:ENST00000315717) - p.Asp39Asn (Ensembl:ENST00000295685) - c.115G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
TCGA novel | 41 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218228749G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228749G>A Locations: - c.121G>A (NCI-TCGA:ENST00000295685) - p.V41I (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1325540906 | 43 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218228756A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228756A>G Locations: - p.Tyr43Cys (Ensembl:ENST00000315717) - c.128A>G (Ensembl:ENST00000315717) - p.Tyr43Cys (Ensembl:ENST00000295685) - c.128A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55286616 | 44 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.33) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218228758C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228758C>T Locations: - c.130C>T (NCI-TCGA:ENST00000295685) - p.H44Y (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1403697106 | 45 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000002.12:g.218228761A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228761A>G Locations: - p.Ile45Val (Ensembl:ENST00000315717) - c.133A>G (Ensembl:ENST00000315717) - p.Ile45Val (Ensembl:ENST00000295685) - c.133A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55284138 | 46 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218228765C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228765C>T Locations: - c.137C>T (NCI-TCGA:ENST00000295685) - p.S46L (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs773125416 | 48 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.218228771C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228771C>T Locations: - p.Pro48Leu (Ensembl:ENST00000315717) - c.143C>T (Ensembl:ENST00000315717) - p.Pro48Leu (Ensembl:ENST00000295685) - c.143C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55286257 | 48 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218228770C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228770C>T Locations: - c.142C>T (NCI-TCGA:ENST00000295685) - p.P48S (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1689566346 | 48 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218228770C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228770C>A Locations: - p.Pro48Thr (Ensembl:ENST00000295685) - c.142C>A (Ensembl:ENST00000295685) - p.Pro48Thr (Ensembl:ENST00000315717) - c.142C>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
TCGA novel | 50 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.218228777G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228777G>A Locations: - c.149G>A (NCI-TCGA:ENST00000295685) - p.G50E (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs760643495 | 53 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218228785A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228785A>G Locations: - p.Thr53Ala (Ensembl:ENST00000295685) - c.157A>G (Ensembl:ENST00000295685) - p.Thr53Ala (Ensembl:ENST00000315717) - c.157A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs766136167 | 56 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.218228796G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228796G>C Locations: - p.Met56Ile (Ensembl:ENST00000295685) - c.168G>C (Ensembl:ENST00000295685) - p.Met56Ile (Ensembl:ENST00000315717) - c.168G>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1411482230 | 56 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000002.12:g.218228794A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228794A>T Locations: - p.Met56Leu (Ensembl:ENST00000295685) - c.166A>T (Ensembl:ENST00000295685) - p.Met56Leu (Ensembl:ENST00000315717) - c.166A>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1689566737 | 57 | V>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218228797G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228797G>T Locations: - p.Val57Phe (Ensembl:ENST00000295685) - c.169G>T (Ensembl:ENST00000295685) - p.Val57Phe (Ensembl:ENST00000315717) - c.169G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1689566802 | 58 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218228801G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228801G>A Locations: - p.Ser58Asn (Ensembl:ENST00000295685) - c.173G>A (Ensembl:ENST00000295685) - p.Ser58Asn (Ensembl:ENST00000315717) - c.173G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs753685752 | 59 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.218228803A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228803A>G Locations: - p.Ile59Val (Ensembl:ENST00000295685) - c.175A>G (Ensembl:ENST00000295685) - p.Ile59Val (Ensembl:ENST00000315717) - c.175A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55284389 | 62 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.421) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000002.12:g.218228814A>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228814A>C Locations: - c.186A>C (NCI-TCGA:ENST00000295685) - p.K62N (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV99826591 | 64 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218228819A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228819A>G Locations: - c.191A>G (NCI-TCGA:ENST00000295685) - p.Y64C (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1436639684 | 65 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.218228822A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228822A>G Locations: - p.Lys65Arg (Ensembl:ENST00000295685) - c.194A>G (Ensembl:ENST00000295685) - p.Lys65Arg (Ensembl:ENST00000315717) - c.194A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1425668486 | 66 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000002.12:g.218228826A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228826A>C Locations: - p.Glu66Asp (Ensembl:ENST00000315717) - c.198A>C (Ensembl:ENST00000315717) - p.Glu66Asp (Ensembl:ENST00000295685) - c.198A>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs754546600 | 69 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218228833G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228833G>T Locations: - p.Ala69Ser (Ensembl:ENST00000295685) - c.205G>T (Ensembl:ENST00000295685) - p.Ala69Ser (Ensembl:ENST00000315717) - c.205G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1689567146 | 69 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218228834C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228834C>T Locations: - p.Ala69Val (Ensembl:ENST00000315717) - c.206C>T (Ensembl:ENST00000315717) - p.Ala69Val (Ensembl:ENST00000295685) - c.206C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV99826946 | 70 | H>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218228837A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218228837A>G Locations: - p.His70Arg (cosmic curated:ENST00000315717) - c.209A>G (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1162897270 | 73 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218228845G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228845G>A Locations: - p.Asp73Asn (Ensembl:ENST00000295685) - c.217G>A (Ensembl:ENST00000295685) - p.Asp73Asn (Ensembl:ENST00000315717) - c.217G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55283989 | 74 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.45) Somatic: Yes Accession: NC_000002.12:g.218228850G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218228850G>T Locations: - c.222G>T (NCI-TCGA:ENST00000295685) - p.E74D (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1374944730 | 75 | L>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218234353T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218234353T>C Locations: - p.Leu75Ser (Ensembl:ENST00000315717) - c.224T>C (Ensembl:ENST00000315717) - p.Leu75Ser (Ensembl:ENST00000295685) - c.224T>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs764999195 | 79 | V>A | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.863) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000002.12:g.218234365T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218234365T>C Locations: - p.Val79Ala (Ensembl:ENST00000315717) - c.236T>C (Ensembl:ENST00000315717) - p.Val79Ala (Ensembl:ENST00000295685) - c.236T>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55283895 rs1689717651 | 79 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.26) - PolyPhen: benign (0.005) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000002.12:g.218234364G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218234364G>T Locations: - p.V79L (NCI-TCGA:ENST00000295685) - p.V79L (NCI-TCGA:ENST00000315717) - p.Val79Leu (Ensembl:ENST00000295685) - c.235G>T (Ensembl:ENST00000295685) - p.Val79Leu (Ensembl:ENST00000315717) - c.235G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs199578440 | 81 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.218234370G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218234370G>A Locations: - p.Gly81Arg (Ensembl:ENST00000315717) - c.241G>A (Ensembl:ENST00000315717) - p.Gly81Arg (Ensembl:ENST00000295685) - c.241G>A (Ensembl:ENST00000295685) Source type: large scale study | |||||||
COSV55285636 | 81 | G>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.218234370G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218234370G>T Locations: - c.241G>T (NCI-TCGA:ENST00000295685) - p.G81W (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV99826631 rs763650783 | 83 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.46) - PolyPhen: benign (0) - SIFT: tolerated (0.46) Somatic: Yes Accession: NC_000002.12:g.218234378C>A, NC_000002.12:g.218234378C>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218234378C>A, NC_000002.12:g.218234378C>G Locations: - c.249C>A (NCI-TCGA:ENST00000295685) - p.F83L (NCI-TCGA:ENST00000295685) - p.Phe83Leu (Ensembl:ENST00000295685) - c.249C>G (Ensembl:ENST00000295685) - p.Phe83Leu (Ensembl:ENST00000315717) - c.249C>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs751147970 | 85 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000002.12:g.218234383T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218234383T>C Locations: - p.Val85Ala (Ensembl:ENST00000295685) - c.254T>C (Ensembl:ENST00000295685) - p.Val85Ala (Ensembl:ENST00000315717) - c.254T>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55286410 | 87 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218234388C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218234388C>T Locations: - p.Pro87Ser (cosmic curated:ENST00000315717) - c.259C>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55285100 | 89 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218234395C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218234395C>T Locations: - p.Ser89Leu (cosmic curated:ENST00000315717) - c.266C>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1431474594 | 92 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000002.12:g.218238669A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238669A>G Locations: - p.Asn92Asp (Ensembl:ENST00000295685) - c.274A>G (Ensembl:ENST00000295685) - p.Asn92Asp (Ensembl:ENST00000315717) - c.274A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV99826698 | 93 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000002.12:g.218238672G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238672G>A Locations: - c.277G>A (NCI-TCGA:ENST00000295685) - p.V93I (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55284826 | 96 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000002.12:g.218238681C>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238681C>A Locations: - c.286C>A (NCI-TCGA:ENST00000295685) - p.L96I (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1239983230 | 97 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218238685A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238685A>G Locations: - p.Tyr97Cys (Ensembl:ENST00000315717) - c.290A>G (Ensembl:ENST00000315717) - p.Tyr97Cys (Ensembl:ENST00000295685) - c.290A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55283588 | 102 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.27) Somatic: Yes Accession: NC_000002.12:g.218238699C>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238699C>A Locations: - c.304C>A (NCI-TCGA:ENST00000295685) - p.L102I (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55283588 | 102 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.23) Somatic: Yes Accession: NC_000002.12:g.218238699C>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238699C>G Locations: - c.304C>G (NCI-TCGA:ENST00000295685) - p.L102V (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55284067 rs1351238168 | 103 | P>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.647) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.218238703C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238703C>T Locations: - p.Pro103Leu (Ensembl:ENST00000315717) - c.308C>T (Ensembl:ENST00000315717) - p.Pro103Leu (Ensembl:ENST00000295685) - c.308C>T (Ensembl:ENST00000295685) Source type: large scale study | |||||||
rs1351238168 | 103 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218238703C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238703C>G Locations: - p.Pro103Arg (Ensembl:ENST00000315717) - c.308C>G (Ensembl:ENST00000315717) - p.Pro103Arg (Ensembl:ENST00000295685) - c.308C>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs373428220 | 103 | P>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218238702C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238702C>A Locations: - p.Pro103Thr (Ensembl:ENST00000295685) - c.307C>A (Ensembl:ENST00000295685) - p.Pro103Thr (Ensembl:ENST00000315717) - c.307C>A (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs1689835723 | 104 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.218238706C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238706C>T Locations: - p.Ala104Val (Ensembl:ENST00000315717) - c.311C>T (Ensembl:ENST00000315717) - p.Ala104Val (Ensembl:ENST00000295685) - c.311C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1264912358 | 106 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000002.12:g.218238711A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238711A>C Locations: - p.Lys106Gln (Ensembl:ENST00000315717) - c.316A>C (Ensembl:ENST00000315717) - p.Lys106Gln (Ensembl:ENST00000295685) - c.316A>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1461667881 | 106 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000002.12:g.218238712A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238712A>G Locations: - p.Lys106Arg (Ensembl:ENST00000315717) - c.317A>G (Ensembl:ENST00000315717) - p.Lys106Arg (Ensembl:ENST00000295685) - c.317A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1461667881 | 106 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000002.12:g.218238712A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238712A>C Locations: - p.Lys106Thr (Ensembl:ENST00000295685) - c.317A>C (Ensembl:ENST00000295685) - p.Lys106Thr (Ensembl:ENST00000315717) - c.317A>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1803065 | 107 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.218238714G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238714G>A Locations: - p.Asp107Asn (Ensembl:ENST00000295685) - c.319G>A (Ensembl:ENST00000295685) - p.Asp107Asn (Ensembl:ENST00000315717) - c.319G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1803065 | 107 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.623) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218238714G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238714G>T Locations: - p.Asp107Tyr (Ensembl:ENST00000295685) - c.319G>T (Ensembl:ENST00000295685) - p.Asp107Tyr (Ensembl:ENST00000315717) - c.319G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs267599209 | 108 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218238718C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238718C>T Locations: - p.Ser108Phe (Ensembl:ENST00000315717) - c.323C>T (Ensembl:ENST00000315717) - p.Ser108Phe (Ensembl:ENST00000295685) - c.323C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs11551125 | 110 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218238723G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238723G>C Locations: - p.Val110Leu (Ensembl:ENST00000295685) - c.328G>C (Ensembl:ENST00000295685) - p.Val110Leu (Ensembl:ENST00000315717) - c.328G>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
TCGA novel | 112 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.218238731A>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238731A>C Locations: - c.336A>C (NCI-TCGA:ENST00000295685) - p.Q112H (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs757883904 | 113 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218238733C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238733C>G Locations: - p.Ala113Gly (Ensembl:ENST00000315717) - c.338C>G (Ensembl:ENST00000315717) - p.Ala113Gly (Ensembl:ENST00000295685) - c.338C>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs774270199 | 113 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.686) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218238732G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238732G>A Locations: - p.Ala113Thr (Ensembl:ENST00000295685) - c.337G>A (Ensembl:ENST00000295685) - p.Ala113Thr (Ensembl:ENST00000315717) - c.337G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs201975910 | 115 | M>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.218238740G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238740G>A Locations: - p.Met115Ile (Ensembl:ENST00000315717) - c.345G>A (Ensembl:ENST00000315717) - p.Met115Ile (Ensembl:ENST00000295685) - c.345G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1689836407 | 115 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218238739T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238739T>C Locations: - p.Met115Thr (Ensembl:ENST00000315717) - c.344T>C (Ensembl:ENST00000315717) - p.Met115Thr (Ensembl:ENST00000295685) - c.344T>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1195160454 | 115 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218238738A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238738A>G Locations: - p.Met115Val (Ensembl:ENST00000295685) - c.343A>G (Ensembl:ENST00000295685) - p.Met115Val (Ensembl:ENST00000315717) - c.343A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55286486 | 118 | R>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218238747C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218238747C>T Locations: - p.Arg118Ter (cosmic curated:ENST00000315717) - c.352C>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV99826579 | 118 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218238748G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218238748G>T Locations: - p.Arg118Leu (cosmic curated:ENST00000315717) - c.353G>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV104403445 rs772187884 | 118 | R>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.709) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000002.12:g.218238748G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238748G>A Locations: - p.Arg118Gln (Ensembl:ENST00000315717) - c.353G>A (Ensembl:ENST00000315717) - p.Arg118Gln (Ensembl:ENST00000295685) - c.353G>A (Ensembl:ENST00000295685) Source type: large scale study | |||||||
rs1182051322 | 120 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218238754G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238754G>C Locations: - p.Cys120Ser (Ensembl:ENST00000295685) - c.359G>C (Ensembl:ENST00000295685) - p.Cys120Ser (Ensembl:ENST00000315717) - c.359G>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs777765139 | 122 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218238759G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238759G>T Locations: - p.Ala122Ser (Ensembl:ENST00000315717) - c.364G>T (Ensembl:ENST00000315717) - p.Ala122Ser (Ensembl:ENST00000295685) - c.364G>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV99826891 | 122 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218238759G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218238759G>A Locations: - p.Ala122Thr (cosmic curated:ENST00000315717) - c.364G>A (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs11551126 | 123 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218238763C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238763C>T Locations: - p.Ser123Phe (Ensembl:ENST00000315717) - c.368C>T (Ensembl:ENST00000315717) - p.Ser123Phe (Ensembl:ENST00000295685) - c.368C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
TCGA novel | 125 | F>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000002.12:g.218238768_218238769del Consequence type: frameshift Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238768_218238769del Locations: - c.374_375del (NCI-TCGA:ENST00000295685) - p.F125* (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV105136198 | 125 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218238770T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218238770T>A Locations: - p.Phe125Leu (cosmic curated:ENST00000315717) - c.375T>A (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55284213 | 127 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.419) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000002.12:g.218238774A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238774A>G Locations: - c.379A>G (NCI-TCGA:ENST00000295685) - p.K127E (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1367590667 | 127 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218238775A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238775A>G Locations: - p.Lys127Arg (Ensembl:ENST00000295685) - c.380A>G (Ensembl:ENST00000295685) - p.Lys127Arg (Ensembl:ENST00000315717) - c.380A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs201701777 | 128 | Y>C | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.133) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218238778A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238778A>G Locations: - p.Tyr128Cys (Ensembl:ENST00000295685) - c.383A>G (Ensembl:ENST00000295685) - p.Tyr128Cys (Ensembl:ENST00000315717) - c.383A>G (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs775360539 | 130 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000002.12:g.218238783C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238783C>A Locations: - p.Gln130Lys (Ensembl:ENST00000295685) - c.388C>A (Ensembl:ENST00000295685) - p.Gln130Lys (Ensembl:ENST00000315717) - c.388C>A (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs1028736942 | 133 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218238792G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238792G>A Locations: - p.Glu133Lys (Ensembl:ENST00000315717) - c.397G>A (Ensembl:ENST00000315717) - p.Glu133Lys (Ensembl:ENST00000295685) - c.397G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
TCGA novel | 134 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000002.12:g.218238796A>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238796A>C Locations: - c.401A>C (NCI-TCGA:ENST00000295685) - p.E134A (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs147649871 | 136 | K>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.218238802A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238802A>G Locations: - p.Lys136Arg (Ensembl:ENST00000295685) - c.407A>G (Ensembl:ENST00000295685) - p.Lys136Arg (Ensembl:ENST00000315717) - c.407A>G (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs1399025004 | 138 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.232) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218238808G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238808G>T Locations: - p.Gly138Val (Ensembl:ENST00000295685) - c.413G>T (Ensembl:ENST00000295685) - p.Gly138Val (Ensembl:ENST00000315717) - c.413G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs774147455 | 139 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218238811A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238811A>G Locations: - p.Glu139Gly (Ensembl:ENST00000315717) - c.416A>G (Ensembl:ENST00000315717) - p.Glu139Gly (Ensembl:ENST00000295685) - c.416A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV108088414 | 139 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218238810G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218238810G>C Locations: - p.Glu139Gln (cosmic curated:ENST00000315717) - c.415G>C (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1470401008 | 140 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218238815C>A, NC_000002.12:g.218238815C>G Codon: AAC/AAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238815C>A, NC_000002.12:g.218238815C>G Locations: - p.Asn140Lys (Ensembl:ENST00000295685) - c.420C>A (Ensembl:ENST00000295685) - p.Asn140Lys (Ensembl:ENST00000315717) - c.420C>A (Ensembl:ENST00000315717) - c.420C>G (Ensembl:ENST00000315717) - c.420C>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1330957504 | 140 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000002.12:g.218238814A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238814A>G Locations: - p.Asn140Ser (Ensembl:ENST00000315717) - c.419A>G (Ensembl:ENST00000315717) - p.Asn140Ser (Ensembl:ENST00000295685) - c.419A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs984436737 | 143 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.218238822G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238822G>A Locations: - p.Val143Ile (Ensembl:ENST00000295685) - c.427G>A (Ensembl:ENST00000295685) - p.Val143Ile (Ensembl:ENST00000315717) - c.427G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs749920529 | 144 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218238826T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238826T>C Locations: - p.Ile144Thr (Ensembl:ENST00000315717) - c.431T>C (Ensembl:ENST00000315717) - p.Ile144Thr (Ensembl:ENST00000295685) - c.431T>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55284794 | 145 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000002.12:g.218238829A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238829A>G Locations: - c.434A>G (NCI-TCGA:ENST00000295685) - p.H145R (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1317405428 | 145 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218238828C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238828C>T Locations: - p.His145Tyr (Ensembl:ENST00000315717) - c.433C>T (Ensembl:ENST00000315717) - p.His145Tyr (Ensembl:ENST00000295685) - c.433C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55286440 | 146 | Y>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218238831T>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238831T>A Locations: - c.436T>A (NCI-TCGA:ENST00000295685) - p.Y146N (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
TCGA novel | 147 | R>M | 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_000002.12:g.218238835G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238835G>T Locations: - c.440G>T (NCI-TCGA:ENST00000295685) - p.R147M (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1173967968 | 148 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.593) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218238837G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238837G>C Locations: - p.Asp148His (Ensembl:ENST00000315717) - c.442G>C (Ensembl:ENST00000315717) - p.Asp148His (Ensembl:ENST00000295685) - c.442G>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55286343 rs1173967968 | 148 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.08) - PolyPhen: benign (0.01) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000002.12:g.218238837G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238837G>A Locations: - p.D148N (NCI-TCGA:ENST00000295685) - p.D148N (NCI-TCGA:ENST00000315717) - p.Asp148Asn (Ensembl:ENST00000295685) - c.442G>A (Ensembl:ENST00000295685) - p.Asp148Asn (Ensembl:ENST00000315717) - c.442G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1689839271 | 148 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.419) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218238838A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238838A>T Locations: - p.Asp148Val (Ensembl:ENST00000295685) - c.443A>T (Ensembl:ENST00000295685) - p.Asp148Val (Ensembl:ENST00000315717) - c.443A>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs865949510 | 149 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218238840G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238840G>A Locations: - p.Asp149Asn (Ensembl:ENST00000295685) - c.445G>A (Ensembl:ENST00000295685) - p.Asp149Asn (Ensembl:ENST00000315717) - c.445G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1689839430 | 151 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218238847C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218238847C>A Locations: - p.Thr151Asn (Ensembl:ENST00000295685) - c.452C>A (Ensembl:ENST00000295685) - p.Thr151Asn (Ensembl:ENST00000315717) - c.452C>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55284406 | 152 | M>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218238849A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218238849A>G Locations: - p.Met152Val (cosmic curated:ENST00000315717) - c.454A>G (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
TCGA novel | 153 | Y>C | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000002.12:g.218239393_218239415del Consequence type: frameshift Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239393_218239415del Locations: - c.458_480del (NCI-TCGA:ENST00000295685) - p.Y153Cfs*10 (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1689854430 | 153 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218239392T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239392T>C Locations: - p.Tyr153His (Ensembl:ENST00000295685) - c.457T>C (Ensembl:ENST00000295685) - p.Tyr153His (Ensembl:ENST00000315717) - c.457T>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1184327596 | 155 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218239399A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239399A>C Locations: - p.Glu155Ala (Ensembl:ENST00000315717) - c.464A>C (Ensembl:ENST00000315717) - p.Glu155Ala (Ensembl:ENST00000295685) - c.464A>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55286107 | 155 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218239399A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218239399A>G Locations: - p.Glu155Gly (cosmic curated:ENST00000315717) - c.464A>G (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55286280 | 155 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.7) Somatic: Yes Accession: NC_000002.12:g.218239398G>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239398G>C Locations: - c.463G>C (NCI-TCGA:ENST00000295685) - p.E155Q (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV99826645 | 156 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.415) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218239402C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239402C>T Locations: - c.467C>T (NCI-TCGA:ENST00000295685) - p.S156F (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs142249772 | 158 | K>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.709) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218239407A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239407A>C Locations: - p.Lys158Gln (Ensembl:ENST00000295685) - c.472A>C (Ensembl:ENST00000295685) - p.Lys158Gln (Ensembl:ENST00000315717) - c.472A>C (Ensembl:ENST00000315717) Source type: large scale study | |||||||
COSV107326649 | 159 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218239410G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218239410G>A Locations: - p.Asp159Asn (cosmic curated:ENST00000315717) - c.475G>A (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
TCGA novel | 159 | D>Y | 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_000002.12:g.218239410G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239410G>T Locations: - c.475G>T (NCI-TCGA:ENST00000295685) - p.D159Y (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1689854725 | 160 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218239413A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239413A>G Locations: - p.Arg160Gly (Ensembl:ENST00000295685) - c.478A>G (Ensembl:ENST00000295685) - p.Arg160Gly (Ensembl:ENST00000315717) - c.478A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs2106154199 | 161 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218239416G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239416G>A Locations: - p.Val161Ile (Ensembl:ENST00000315717) - c.481G>A (Ensembl:ENST00000315717) - p.Val161Ile (Ensembl:ENST00000295685) - c.481G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1689854811 | 162 | T>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218239420C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239420C>A Locations: - p.Thr162Lys (Ensembl:ENST00000315717) - c.485C>A (Ensembl:ENST00000315717) - p.Thr162Lys (Ensembl:ENST00000295685) - c.485C>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1689855031 | 165 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218239428T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239428T>C Locations: - p.Phe165Leu (Ensembl:ENST00000295685) - c.493T>C (Ensembl:ENST00000295685) - p.Phe165Leu (Ensembl:ENST00000315717) - c.493T>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
TCGA novel | 165 | 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_000002.12:g.218239429T>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239429T>C Locations: - c.494T>C (NCI-TCGA:ENST00000295685) - p.F165S (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV55285875 | 167 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218239435C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218239435C>T Locations: - p.Thr167Ile (cosmic curated:ENST00000315717) - c.500C>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs764236963 | 169 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218239442T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239442T>G Locations: - p.Phe169Leu (Ensembl:ENST00000315717) - c.507T>G (Ensembl:ENST00000315717) - p.Phe169Leu (Ensembl:ENST00000295685) - c.507T>G (Ensembl:ENST00000295685) Source type: large scale study | |||||||
rs1400701893 | 171 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218239446G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239446G>A Locations: - p.Asp171Asn (Ensembl:ENST00000315717) - c.511G>A (Ensembl:ENST00000315717) - p.Asp171Asn (Ensembl:ENST00000295685) - c.511G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
TCGA novel | 172 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218239450A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239450A>G Locations: - c.515A>G (NCI-TCGA:ENST00000295685) - p.D172G (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1689855498 | 173 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218239453A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239453A>G Locations: - p.Asp173Gly (Ensembl:ENST00000315717) - c.518A>G (Ensembl:ENST00000315717) - p.Asp173Gly (Ensembl:ENST00000295685) - c.518A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs757282923 | 173 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218239452G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239452G>A Locations: - p.Asp173Asn (Ensembl:ENST00000295685) - c.517G>A (Ensembl:ENST00000295685) - p.Asp173Asn (Ensembl:ENST00000315717) - c.517G>A (Ensembl:ENST00000315717) Source type: large scale study | |||||||
COSV104403444 | 174 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218239456A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218239456A>G Locations: - p.Asp174Gly (cosmic curated:ENST00000315717) - c.521A>G (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55285125 rs781466543 | 174 | D>N | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000002.12:g.218239455G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239455G>A Locations: - p.Asp174Asn (Ensembl:ENST00000295685) - c.520G>A (Ensembl:ENST00000295685) - p.Asp174Asn (Ensembl:ENST00000315717) - c.520G>A (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs1344894388 COSV99826805 | 179 | K>N | 1000Genomes gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.218239472G>C, NC_000002.12:g.218239472G>T Codon: AAG/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239472G>C, NC_000002.12:g.218239472G>T Locations: - p.Lys179Asn (Ensembl:ENST00000315717) - c.537G>C (Ensembl:ENST00000315717) - p.Lys179Asn (Ensembl:ENST00000295685) - c.537G>C (Ensembl:ENST00000295685) - p.Lys179Asn (cosmic curated:ENST00000315717) - c.537G>T (cosmic curated:ENST00000315717) Source type: large scale study | |||||||
COSV55286821 | 182 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.522) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218239479A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218239479A>G Locations: - c.544A>G (NCI-TCGA:ENST00000295685) - p.M182V (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55284032 | 184 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218245420G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245420G>T Locations: - c.550G>T (NCI-TCGA:ENST00000295685) - p.E184* (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1462999640 | 184 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218245421A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245421A>G Locations: - p.Glu184Gly (Ensembl:ENST00000295685) - c.551A>G (Ensembl:ENST00000295685) - p.Glu184Gly (Ensembl:ENST00000315717) - c.551A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1232628770 | 185 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218245423T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245423T>G Locations: - p.Phe185Val (Ensembl:ENST00000315717) - c.553T>G (Ensembl:ENST00000315717) - p.Phe185Val (Ensembl:ENST00000295685) - c.553T>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1289903288 | 186 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000002.12:g.218245427A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245427A>G Locations: - p.Lys186Arg (Ensembl:ENST00000315717) - c.557A>G (Ensembl:ENST00000315717) - p.Lys186Arg (Ensembl:ENST00000295685) - c.557A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
TCGA novel | 188 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218245433G>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245433G>C Locations: - c.563G>C (NCI-TCGA:ENST00000295685) - p.G188A (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV55283528 rs1433485062 | 189 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.218245435C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245435C>T Locations: - p.R189C (NCI-TCGA:ENST00000295685) - p.R189C (NCI-TCGA:ENST00000315717) - p.Arg189Cys (Ensembl:ENST00000295685) - c.565C>T (Ensembl:ENST00000295685) - p.Arg189Cys (Ensembl:ENST00000315717) - c.565C>T (Ensembl:ENST00000315717) Source type: large scale study | |||||||
TCGA novel | 189 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.836) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218245436G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245436G>T Locations: - c.566G>T (NCI-TCGA:ENST00000295685) - p.R189L (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1574592281 | 191 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218245441G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245441G>C Locations: - p.Ala191Pro (Ensembl:ENST00000315717) - c.571G>C (Ensembl:ENST00000315717) - p.Ala191Pro (Ensembl:ENST00000295685) - c.571G>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs2106157583 | 192 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218245445G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245445G>T Locations: - p.Ser192Ile (Ensembl:ENST00000295685) - c.575G>T (Ensembl:ENST00000295685) - p.Ser192Ile (Ensembl:ENST00000315717) - c.575G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs770592563 | 193 | H>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.218245447C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245447C>A Locations: - p.His193Asn (Ensembl:ENST00000315717) - c.577C>A (Ensembl:ENST00000315717) - p.His193Asn (Ensembl:ENST00000295685) - c.577C>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs770592563 | 193 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218245447C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245447C>T Locations: - p.His193Tyr (Ensembl:ENST00000315717) - c.577C>T (Ensembl:ENST00000315717) - p.His193Tyr (Ensembl:ENST00000295685) - c.577C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1690009284 | 194 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218245450A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245450A>G Locations: - p.Thr194Ala (Ensembl:ENST00000295685) - c.580A>G (Ensembl:ENST00000295685) - p.Thr194Ala (Ensembl:ENST00000315717) - c.580A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55283873 | 194 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218245451C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218245451C>T Locations: - p.Thr194Ile (cosmic curated:ENST00000315717) - c.581C>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1690009284 | 194 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218245450A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245450A>C Locations: - p.Thr194Pro (Ensembl:ENST00000295685) - c.580A>C (Ensembl:ENST00000295685) - p.Thr194Pro (Ensembl:ENST00000315717) - c.580A>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs757210844 | 196 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218245457C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245457C>T Locations: - p.Pro196Leu (Ensembl:ENST00000315717) - c.587C>T (Ensembl:ENST00000315717) - p.Pro196Leu (Ensembl:ENST00000295685) - c.587C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV99826691 | 196 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218245456C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245456C>T Locations: - c.586C>T (NCI-TCGA:ENST00000295685) - p.P196S (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1041935451 | 199 | L>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.571) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218245465C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245465C>G Locations: - p.Leu199Val (Ensembl:ENST00000315717) - c.595C>G (Ensembl:ENST00000315717) - p.Leu199Val (Ensembl:ENST00000295685) - c.595C>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1174444575 | 203 | R>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.575) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218245478G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245478G>T Locations: - p.Arg203Met (Ensembl:ENST00000295685) - c.608G>T (Ensembl:ENST00000295685) - p.Arg203Met (Ensembl:ENST00000315717) - c.608G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55285670 | 205 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218245484C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218245484C>A Locations: - p.Pro205His (cosmic curated:ENST00000315717) - c.614C>A (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV99826780 | 206 | P>L | 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_000002.12:g.218245487C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245487C>T Locations: - c.617C>T (NCI-TCGA:ENST00000295685) - p.P206L (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1690010134 | 207 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218245490T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245490T>C Locations: - p.Leu207Pro (Ensembl:ENST00000295685) - c.620T>C (Ensembl:ENST00000295685) - p.Leu207Pro (Ensembl:ENST00000315717) - c.620T>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55286927 | 207 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218245489C>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245489C>G Locations: - c.619C>G (NCI-TCGA:ENST00000295685) - p.L207V (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs769353604 | 210 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218245500A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245500A>C Locations: - p.Lys210Asn (Ensembl:ENST00000315717) - c.630A>C (Ensembl:ENST00000315717) - p.Lys210Asn (Ensembl:ENST00000295685) - c.630A>C (Ensembl:ENST00000295685) Source type: large scale study | |||||||
COSV55285557 | 211 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218245503C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218245503C>G Locations: - p.Asp211Glu (cosmic curated:ENST00000315717) - c.633C>G (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1690010494 | 211 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218245501G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245501G>C Locations: - p.Asp211His (Ensembl:ENST00000315717) - c.631G>C (Ensembl:ENST00000315717) - p.Asp211His (Ensembl:ENST00000295685) - c.631G>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs775859131 | 212 | T>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218245505C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245505C>G Locations: - p.Thr212Arg (Ensembl:ENST00000315717) - c.635C>G (Ensembl:ENST00000315717) - p.Thr212Arg (Ensembl:ENST00000295685) - c.635C>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV99826689 | 213 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218245508A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218245508A>G Locations: - p.Asp213Gly (cosmic curated:ENST00000315717) - c.638A>G (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1690010648 | 213 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.352) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218245508A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245508A>T Locations: - p.Asp213Val (Ensembl:ENST00000315717) - c.638A>T (Ensembl:ENST00000315717) - p.Asp213Val (Ensembl:ENST00000295685) - c.638A>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1299517747 | 214 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.31) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218245510G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245510G>T Locations: - p.Ala214Ser (Ensembl:ENST00000295685) - c.640G>T (Ensembl:ENST00000295685) - p.Ala214Ser (Ensembl:ENST00000315717) - c.640G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs140913952 | 215 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000002.12:g.218245513G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245513G>A Locations: - p.Ala215Thr (Ensembl:ENST00000315717) - c.643G>A (Ensembl:ENST00000315717) - p.Ala215Thr (Ensembl:ENST00000295685) - c.643G>A (Ensembl:ENST00000295685) Source type: large scale study | |||||||
rs774805325 | 216 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218245517T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245517T>G Locations: - p.Val216Gly (Ensembl:ENST00000315717) - c.647T>G (Ensembl:ENST00000315717) - p.Val216Gly (Ensembl:ENST00000295685) - c.647T>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs539486804 | 218 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218245522G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245522G>A Locations: - p.Asp218Asn (Ensembl:ENST00000315717) - c.652G>A (Ensembl:ENST00000315717) - p.Asp218Asn (Ensembl:ENST00000295685) - c.652G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1325114414 | 220 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218245529T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245529T>A Locations: - p.Ile220Asn (Ensembl:ENST00000315717) - c.659T>A (Ensembl:ENST00000315717) - p.Ile220Asn (Ensembl:ENST00000295685) - c.659T>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1325114414 | 220 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.563) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218245529T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245529T>C Locations: - p.Ile220Thr (Ensembl:ENST00000315717) - c.659T>C (Ensembl:ENST00000315717) - p.Ile220Thr (Ensembl:ENST00000295685) - c.659T>C (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV105878505 rs1690011332 | 221 | G>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.853) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000002.12:g.218245531G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245531G>A Locations: - p.Gly221Ser (Ensembl:ENST00000295685) - c.661G>A (Ensembl:ENST00000295685) - p.Gly221Ser (Ensembl:ENST00000315717) - c.661G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs2106157655 | 223 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000002.12:g.218245537A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218245537A>G Locations: - p.Ile223Val (Ensembl:ENST00000295685) - c.667A>G (Ensembl:ENST00000295685) - p.Ile223Val (Ensembl:ENST00000315717) - c.667A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55283826 | 227 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249366C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249366C>A Locations: - p.Leu227Met (cosmic curated:ENST00000315717) - c.679C>A (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1225118375 | 227 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.775) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218249366C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249366C>G Locations: - p.Leu227Val (Ensembl:ENST00000295685) - c.679C>G (Ensembl:ENST00000295685) - p.Leu227Val (Ensembl:ENST00000315717) - c.679C>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1690125245 | 228 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.218249371C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249371C>A Locations: - p.Phe228Leu (Ensembl:ENST00000295685) - c.684C>A (Ensembl:ENST00000295685) - p.Phe228Leu (Ensembl:ENST00000315717) - c.684C>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55285385 rs1028406646 | 229 | P>L | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.218249373C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249373C>T Locations: - p.Pro229Leu (Ensembl:ENST00000315717) - c.686C>T (Ensembl:ENST00000315717) - p.Pro229Leu (Ensembl:ENST00000295685) - c.686C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55284320 rs1362317685 | 230 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: deleterious (0.02) - PolyPhen: possibly damaging (0.715) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000002.12:g.218249375C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249375C>T Locations: - p.R230C (NCI-TCGA:ENST00000295685) - p.R230C (NCI-TCGA:ENST00000315717) - p.Arg230Cys (Ensembl:ENST00000295685) - c.688C>T (Ensembl:ENST00000295685) - p.Arg230Cys (Ensembl:ENST00000315717) - c.688C>T (Ensembl:ENST00000315717) Source type: large scale study | |||||||
COSV55285318 rs1348826847 | 230 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: deleterious (0.01) - PolyPhen: benign (0.195) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000002.12:g.218249376G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249376G>A Locations: - p.R230H (NCI-TCGA:ENST00000295685) - p.R230H (NCI-TCGA:ENST00000315717) - p.Arg230His (Ensembl:ENST00000315717) - c.689G>A (Ensembl:ENST00000315717) - p.Arg230His (Ensembl:ENST00000295685) - c.689G>A (Ensembl:ENST00000295685) Source type: large scale study | |||||||
rs751557406 | 233 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000002.12:g.218249385A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249385A>G Locations: - p.Asn233Ser (Ensembl:ENST00000315717) - c.698A>G (Ensembl:ENST00000315717) - p.Asn233Ser (Ensembl:ENST00000295685) - c.698A>G (Ensembl:ENST00000295685) Source type: large scale study | |||||||
COSV105136163 | 234 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249387G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249387G>T Locations: - p.Ala234Ser (cosmic curated:ENST00000315717) - c.700G>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs757044338 | 235 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000002.12:g.218249390A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249390A>G Locations: - p.Ser235Gly (Ensembl:ENST00000315717) - c.703A>G (Ensembl:ENST00000315717) - p.Ser235Gly (Ensembl:ENST00000295685) - c.703A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1342933002 | 236 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000002.12:g.218249393G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249393G>A Locations: - p.Ala236Thr (Ensembl:ENST00000295685) - c.706G>A (Ensembl:ENST00000295685) - p.Ala236Thr (Ensembl:ENST00000315717) - c.706G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55283918 | 237 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249396C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249396C>T Locations: - c.709C>T (NCI-TCGA:ENST00000295685) - p.R237* (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55284011 rs767343116 | 237 | R>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000002.12:g.218249397G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249397G>A Locations: - p.Arg237Gln (Ensembl:ENST00000295685) - c.710G>A (Ensembl:ENST00000295685) - p.Arg237Gln (Ensembl:ENST00000315717) - c.710G>A (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs763524611 | 238 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.643) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218249400A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249400A>G Locations: - p.Asp238Gly (Ensembl:ENST00000295685) - c.713A>G (Ensembl:ENST00000295685) - p.Asp238Gly (Ensembl:ENST00000315717) - c.713A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1364747200 | 238 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218249399G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249399G>C Locations: - p.Asp238His (Ensembl:ENST00000295685) - c.712G>C (Ensembl:ENST00000295685) - p.Asp238His (Ensembl:ENST00000315717) - c.712G>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs755789501 | 239 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218249402A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249402A>G Locations: - p.Asn239Asp (Ensembl:ENST00000315717) - c.715A>G (Ensembl:ENST00000315717) - p.Asn239Asp (Ensembl:ENST00000295685) - c.715A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1417583733 | 239 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218249403A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249403A>G Locations: - p.Asn239Ser (Ensembl:ENST00000315717) - c.716A>G (Ensembl:ENST00000315717) - p.Asn239Ser (Ensembl:ENST00000295685) - c.716A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV105878509 | 241 | I>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249409T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249409T>A Locations: - p.Ile241Asn (cosmic curated:ENST00000315717) - c.722T>A (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55286507 | 244 | I>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249418T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249418T>A Locations: - p.Ile244Asn (cosmic curated:ENST00000315717) - c.731T>A (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs770584750 | 246 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218249423A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249423A>G Locations: - p.Thr246Ala (Ensembl:ENST00000295685) - c.736A>G (Ensembl:ENST00000295685) - p.Thr246Ala (Ensembl:ENST00000315717) - c.736A>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs779395678 | 246 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.593) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000002.12:g.218249424C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249424C>T Locations: - p.Thr246Met (Ensembl:ENST00000295685) - c.737C>T (Ensembl:ENST00000295685) - p.Thr246Met (Ensembl:ENST00000315717) - c.737C>T (Ensembl:ENST00000315717) Source type: large scale study | |||||||
COSV99041015 | 248 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249430G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249430G>T Locations: - p.Arg248Leu (cosmic curated:ENST00000315717) - c.743G>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55283616 rs895649590 | 248 | R>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.709) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000002.12:g.218249430G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249430G>A Locations: - p.Arg248Gln (Ensembl:ENST00000315717) - c.743G>A (Ensembl:ENST00000315717) - p.Arg248Gln (Ensembl:ENST00000295685) - c.743G>A (Ensembl:ENST00000295685) Source type: large scale study | |||||||
rs369055854 | 248 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218249429C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249429C>T Locations: - p.Arg248Trp (Ensembl:ENST00000315717) - c.742C>T (Ensembl:ENST00000315717) - p.Arg248Trp (Ensembl:ENST00000295685) - c.742C>T (Ensembl:ENST00000295685) Source type: large scale study | |||||||
COSV55285888 | 250 | Y>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249436A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249436A>G Locations: - p.Tyr250Cys (cosmic curated:ENST00000315717) - c.749A>G (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs536542860 | 251 | L>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218249438C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249438C>G Locations: - p.Leu251Val (Ensembl:ENST00000295685) - c.751C>G (Ensembl:ENST00000295685) - p.Leu251Val (Ensembl:ENST00000315717) - c.751C>G (Ensembl:ENST00000315717) Source type: large scale study | |||||||
COSV55285241 | 254 | H>R | 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_000002.12:g.218249448A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249448A>G Locations: - c.761A>G (NCI-TCGA:ENST00000295685) - p.H254R (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55283494 | 255 | I>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249452C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249452C>G Locations: - p.Ile255Met (cosmic curated:ENST00000315717) - c.765C>G (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1690128055 | 258 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218249460C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249460C>T Locations: - p.Ser258Phe (Ensembl:ENST00000295685) - c.773C>T (Ensembl:ENST00000295685) - p.Ser258Phe (Ensembl:ENST00000315717) - c.773C>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV99826732 | 259 | K>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_000002.12:g.218249463A>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249463A>T Locations: - c.776A>T (NCI-TCGA:ENST00000295685) - p.K259M (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV106406775 rs1473278974 | 260 | A>V | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000002.12:g.218249822C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249822C>T Locations: - p.Ala260Val (Ensembl:ENST00000315717) - c.779C>T (Ensembl:ENST00000315717) - p.Ala260Val (Ensembl:ENST00000295685) - c.779C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1159182893 | 263 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218249830C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249830C>A Locations: - p.His263Asn (Ensembl:ENST00000295685) - c.787C>A (Ensembl:ENST00000295685) - p.His263Asn (Ensembl:ENST00000315717) - c.787C>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1690140171 | 264 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.218249834C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249834C>T Locations: - p.Thr264Ile (Ensembl:ENST00000315717) - c.791C>T (Ensembl:ENST00000315717) - p.Thr264Ile (Ensembl:ENST00000295685) - c.791C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs758995418 | 265 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218249836C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249836C>T Locations: - p.Arg265Cys (Ensembl:ENST00000295685) - c.793C>T (Ensembl:ENST00000295685) - p.Arg265Cys (Ensembl:ENST00000315717) - c.793C>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1257537129 | 265 | R>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.569) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.218249837G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249837G>A Locations: - p.Arg265His (Ensembl:ENST00000315717) - c.794G>A (Ensembl:ENST00000315717) - p.Arg265His (Ensembl:ENST00000295685) - c.794G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV105878502 | 265 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249837G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249837G>T Locations: - p.Arg265Leu (cosmic curated:ENST00000315717) - c.794G>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs778243101 | 266 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218249840T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249840T>C Locations: - p.Met266Thr (Ensembl:ENST00000295685) - c.797T>C (Ensembl:ENST00000295685) - p.Met266Thr (Ensembl:ENST00000315717) - c.797T>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
TCGA novel | 266 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218249839A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249839A>G Locations: - c.796A>G (NCI-TCGA:ENST00000295685) - p.M266V (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs771259247 | 267 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218249843G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249843G>A Locations: - p.Arg267Gln (Ensembl:ENST00000295685) - c.800G>A (Ensembl:ENST00000295685) - p.Arg267Gln (Ensembl:ENST00000315717) - c.800G>A (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs747382487 | 267 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218249842C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249842C>T Locations: - p.Arg267Trp (Ensembl:ENST00000295685) - c.799C>T (Ensembl:ENST00000295685) - p.Arg267Trp (Ensembl:ENST00000315717) - c.799C>T (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs746119094 | 268 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218249845G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249845G>A Locations: - p.Ala268Thr (Ensembl:ENST00000315717) - c.802G>A (Ensembl:ENST00000315717) - p.Ala268Thr (Ensembl:ENST00000295685) - c.802G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs769896904 | 268 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218249846C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249846C>T Locations: - p.Ala268Val (Ensembl:ENST00000315717) - c.803C>T (Ensembl:ENST00000315717) - p.Ala268Val (Ensembl:ENST00000295685) - c.803C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1321551360 | 270 | T>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218249852C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249852C>T Locations: - p.Thr270Met (Ensembl:ENST00000295685) - c.809C>T (Ensembl:ENST00000295685) - p.Thr270Met (Ensembl:ENST00000315717) - c.809C>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV99826934 | 275 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218249868G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249868G>T Locations: - c.825G>T (NCI-TCGA:ENST00000295685) - p.K275N (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs376913425 | 275 | K>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.713) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218249867A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249867A>G Locations: - p.Lys275Arg (Ensembl:ENST00000315717) - c.824A>G (Ensembl:ENST00000315717) - p.Lys275Arg (Ensembl:ENST00000295685) - c.824A>G (Ensembl:ENST00000295685) Source type: large scale study | |||||||
COSV108088338 rs764789818 | 279 | R>C | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218249878C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249878C>T Locations: - p.Arg279Cys (Ensembl:ENST00000315717) - c.835C>T (Ensembl:ENST00000315717) - p.Arg279Cys (Ensembl:ENST00000295685) - c.835C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55284943 rs1041531687 | 279 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.85) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000002.12:g.218249879G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249879G>A Locations: - p.R279H (NCI-TCGA:ENST00000295685) - p.R279H (NCI-TCGA:ENST00000315717) - p.Arg279His (Ensembl:ENST00000315717) - c.836G>A (Ensembl:ENST00000315717) - p.Arg279His (Ensembl:ENST00000295685) - c.836G>A (Ensembl:ENST00000295685) Source type: large scale study | |||||||
COSV99826821 | 279 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249878C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249878C>A Locations: - p.Arg279Ser (cosmic curated:ENST00000315717) - c.835C>A (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs777996603 | 280 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.58) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218249881G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249881G>T Locations: - p.Ala280Ser (Ensembl:ENST00000295685) - c.838G>T (Ensembl:ENST00000295685) - p.Ala280Ser (Ensembl:ENST00000315717) - c.838G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1267492794 | 281 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.827) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218249884C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249884C>T Locations: - p.Arg281Cys (Ensembl:ENST00000315717) - c.841C>T (Ensembl:ENST00000315717) - p.Arg281Cys (Ensembl:ENST00000295685) - c.841C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs188696608 | 281 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.218249885G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249885G>A Locations: - p.Arg281His (Ensembl:ENST00000315717) - c.842G>A (Ensembl:ENST00000315717) - p.Arg281His (Ensembl:ENST00000295685) - c.842G>A (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
COSV55286370 rs188696608 | 281 | R>L | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000002.12:g.218249885G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249885G>T Locations: - p.Arg281Leu (Ensembl:ENST00000295685) - c.842G>T (Ensembl:ENST00000295685) - p.Arg281Leu (Ensembl:ENST00000315717) - c.842G>T (Ensembl:ENST00000315717) Source type: large scale study | |||||||
rs1178833701 | 282 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218249887C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249887C>G Locations: - p.Pro282Ala (Ensembl:ENST00000295685) - c.844C>G (Ensembl:ENST00000295685) - p.Pro282Ala (Ensembl:ENST00000315717) - c.844C>G (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1178833701 | 282 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.218249887C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249887C>T Locations: - p.Pro282Ser (Ensembl:ENST00000295685) - c.844C>T (Ensembl:ENST00000295685) - p.Pro282Ser (Ensembl:ENST00000315717) - c.844C>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55285846 | 283 | D>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249891A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249891A>T Locations: - p.Asp283Val (cosmic curated:ENST00000315717) - c.848A>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55286028 COSV55286028,COSV99826615 COSV99826615 | 285 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249896G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249896G>T Locations: - c.853G>T (NCI-TCGA:ENST00000295685) - p.E285* (NCI-TCGA:ENST00000295685) Source type: large scale study | |||||||
COSV55286028 rs757612121 | 285 | E>K | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.82) Somatic: Yes Accession: NC_000002.12:g.218249896G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249896G>A Locations: - p.Glu285Lys (Ensembl:ENST00000295685) - c.853G>A (Ensembl:ENST00000295685) - p.Glu285Lys (Ensembl:ENST00000315717) - c.853G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55285821 | 286 | K>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249900A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249900A>G Locations: - p.Lys286Arg (cosmic curated:ENST00000315717) - c.857A>G (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV107326774 | 288 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218249905G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218249905G>T Locations: - p.Glu288Ter (cosmic curated:ENST00000315717) - c.862G>T (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1430599695 | 290 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000002.12:g.218249912A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249912A>G Locations: - p.Lys290Arg (Ensembl:ENST00000315717) - c.869A>G (Ensembl:ENST00000315717) - p.Lys290Arg (Ensembl:ENST00000295685) - c.869A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1343696871 | 291 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218249915C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249915C>T Locations: - p.Thr291Ile (Ensembl:ENST00000315717) - c.872C>T (Ensembl:ENST00000315717) - p.Thr291Ile (Ensembl:ENST00000295685) - c.872C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1690142845 | 292 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218249918T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249918T>C Locations: - p.Ile292Thr (Ensembl:ENST00000295685) - c.875T>C (Ensembl:ENST00000295685) - p.Ile292Thr (Ensembl:ENST00000315717) - c.875T>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55284994 | 293 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000002.12:g.218249920A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249920A>G Locations: - c.877A>G (NCI-TCGA:ENST00000295685) - p.T293A (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs374047289 | 293 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: deleterious (0) - PolyPhen: benign (0.071) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0.00000832 (gnomAD) Accession: NC_000002.12:g.218249921C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218249921C>T Locations: - p.T293M (NCI-TCGA:ENST00000295685) - p.T293M (NCI-TCGA:ENST00000315717) - p.Thr293Met (Ensembl:ENST00000295685) - c.878C>T (Ensembl:ENST00000295685) - p.Thr293Met (Ensembl:ENST00000315717) - c.878C>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs2106162931 | 296 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218253898A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218253898A>G Locations: - p.Thr296Ala (Ensembl:ENST00000315717) - c.886A>G (Ensembl:ENST00000315717) - p.Thr296Ala (Ensembl:ENST00000295685) - c.886A>G (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs769777853 | 297 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.218253903T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218253903T>A Locations: - p.Phe297Leu (Ensembl:ENST00000295685) - c.891T>A (Ensembl:ENST00000295685) - p.Phe297Leu (Ensembl:ENST00000315717) - c.891T>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55287088 | 299 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.218253908C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.218253908C>A Locations: - p.Ser299Tyr (cosmic curated:ENST00000315717) - c.896C>A (cosmic curated:ENST00000315717) Source type: large scale study Cross-references: | |||||||
COSV55283882 rs2106162944 | 300 | R>C | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.218253910C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218253910C>T Locations: - p.Arg300Cys (Ensembl:ENST00000315717) - c.898C>T (Ensembl:ENST00000315717) - p.Arg300Cys (Ensembl:ENST00000295685) - c.898C>T (Ensembl:ENST00000295685) Source type: large scale study Cross-references: | |||||||
rs1803064 | 300 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.218253911G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218253911G>A Locations: - p.Arg300His (Ensembl:ENST00000295685) - c.899G>A (Ensembl:ENST00000295685) - p.Arg300His (Ensembl:ENST00000315717) - c.899G>A (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
rs1803064 | 300 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.218253911G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218253911G>T Locations: - p.Arg300Leu (Ensembl:ENST00000295685) - c.899G>T (Ensembl:ENST00000295685) - p.Arg300Leu (Ensembl:ENST00000315717) - c.899G>T (Ensembl:ENST00000315717) Source type: large scale study Cross-references: | |||||||
TCGA novel | 301 | *>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop retained Somatic: No Accession: NC_000002.12:g.218253914A>G Consequence type: stop retained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218253914A>G Locations: - c.902A>G (NCI-TCGA:ENST00000295685) - p.*301= (NCI-TCGA:ENST00000295685) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1574599391 | 301 | *>S | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NC_000002.12:g.218253914A>C Codon: TAA/TCA Consequence type: stop lost Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218253914A>C Locations: - p.Ter301SerextTer4 (Ensembl:ENST00000295685) - c.902A>C (Ensembl:ENST00000295685) - p.Ter301SerextTer4 (Ensembl:ENST00000315717) - c.902A>C (Ensembl:ENST00000315717) Source type: large scale study Cross-references: |