E9PQ55 · E9PQ55_HUMAN
- ProteinMYC target 1
- GeneMYCT1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existencePredicted
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1320878743 | 2 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000009897 (gnomAD) Accession: NC_000006.12:g.152697906C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697906C>T Locations: - p.R2* (NCI-TCGA:ENST00000529453) - p.Arg2Ter (Ensembl:ENST00000529453) - c.4C>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891270 rs773225210 | 2 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.00000968 (gnomAD) Accession: NC_000006.12:g.152697907G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697907G>A Locations: - p.R2Q (NCI-TCGA:ENST00000529453) - p.Arg2Gln (Ensembl:ENST00000529453) - c.5G>A (Ensembl:ENST00000529453) Source type: large scale study | |||||||
COSV100924092 rs2099720679 | 3 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.152697909A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697909A>G Locations: - p.T3A (NCI-TCGA:ENST00000529453) - p.Thr3Ala (Ensembl:ENST00000529453) - c.7A>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099720681 | 4 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.152697912C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697912C>T Locations: - p.Gln4Ter (Ensembl:ENST00000529453) - c.10C>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2099720682 | 5 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.152697916T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697916T>C Locations: - p.V5A (NCI-TCGA:ENST00000529453) - p.Val5Ala (Ensembl:ENST00000529453) - c.14T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV65890840 rs371405578 | 6 | Y>F | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000006.12:g.152697919A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697919A>T Locations: - p.Tyr6Phe (Ensembl:ENST00000529453) - c.17A>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891290 | 7 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697922A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152697922A>T Locations: - p.Glu7Val (cosmic curated:ENST00000529453) - c.20A>T (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV106110047 | 8 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697925G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152697925G>A Locations: - p.Gly8Glu (cosmic curated:ENST00000529453) - c.23G>A (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1262572304 | 8 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152697925G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697925G>T Locations: - p.Gly8Val (Ensembl:ENST00000529453) - c.23G>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs199666046 | 9 | L>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.152697927T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697927T>A Locations: - p.Leu9Met (Ensembl:ENST00000529453) - c.25T>A (Ensembl:ENST00000529453) Source type: large scale study | |||||||
COSV65891586 | 10 | C>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697931G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152697931G>T Locations: - p.Cys10Phe (cosmic curated:ENST00000529453) - c.29G>T (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1201439215 | 11 | K>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.152697933A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697933A>T Locations: - p.Lys11Ter (Ensembl:ENST00000529453) - c.31A>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs367753265 | 11 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.152697935A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697935A>C Locations: - p.Lys11Asn (Ensembl:ENST00000529453) - c.33A>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1201439215 | 11 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.152697933A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697933A>C Locations: - p.Lys11Gln (Ensembl:ENST00000529453) - c.31A>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891655 | 11 | K>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697934A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152697934A>C Locations: - p.Lys11Thr (cosmic curated:ENST00000529453) - c.32A>C (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs531421445 | 12 | N>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.152697937A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697937A>G Locations: - p.Asn12Ser (Ensembl:ENST00000529453) - c.35A>G (Ensembl:ENST00000529453) Source type: large scale study | |||||||
rs531421445 | 12 | N>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.152697937A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697937A>C Locations: - p.Asn12Thr (Ensembl:ENST00000529453) - c.35A>C (Ensembl:ENST00000529453) Source type: large scale study | |||||||
rs1159680321 | 13 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.152697940A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697940A>G Locations: - p.Tyr13Cys (Ensembl:ENST00000529453) - c.38A>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891236 | 14 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697942T>G Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697942T>G Locations: - p.F14V (NCI-TCGA:ENST00000529453) - p.Phe14Val (cosmic curated:ENST00000529453) - c.40T>G (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1313307770 | 14 | F>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000006.12:g.152697943T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697943T>A Locations: - p.Phe14Tyr (Ensembl:ENST00000529453) - c.41T>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs375501463 | 15 | S>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000006.12:g.152697946C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697946C>T Locations: - p.Ser15Phe (Ensembl:ENST00000529453) - c.44C>T (Ensembl:ENST00000529453) Source type: large scale study | |||||||
rs764721013 | 15 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000006.12:g.152697945T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697945T>A Locations: - p.Ser15Thr (Ensembl:ENST00000529453) - c.43T>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891952 | 15 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697946C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152697946C>A Locations: - p.Ser15Tyr (cosmic curated:ENST00000529453) - c.44C>A (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV105296505 | 16 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697948C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152697948C>T Locations: - p.Leu16Phe (cosmic curated:ENST00000529453) - c.46C>T (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV100924068 | 16 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697948C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152697948C>A Locations: - p.Leu16Ile (cosmic curated:ENST00000529453) - c.46C>A (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs749919234 | 16 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000006.12:g.152697948C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697948C>G Locations: - p.Leu16Val (Ensembl:ENST00000529453) - c.46C>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2129067341 | 18 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000006.12:g.152697955T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697955T>C Locations: - p.Val18Ala (Ensembl:ENST00000529453) - c.53T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs765930456 | 18 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.152697954G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697954G>A Locations: - p.Val18Ile (Ensembl:ENST00000529453) - c.52G>A (Ensembl:ENST00000529453) Source type: large scale study | |||||||
rs753728807 | 19 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000006.12:g.152697958T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697958T>C Locations: - p.Leu19Pro (Ensembl:ENST00000529453) - c.56T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1378049354 | 20 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.152697960C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697960C>T Locations: - p.Gln20Ter (Ensembl:ENST00000529453) - c.58C>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1350452106 | 20 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.152697961A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697961A>C Locations: - p.Gln20Pro (Ensembl:ENST00000529453) - c.59A>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891768 | 21 | R>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697964G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152697964G>T Locations: - p.Arg21Ile (cosmic curated:ENST00000529453) - c.62G>T (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs754734627 | 21 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000006.12:g.152697964G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697964G>A Locations: - p.Arg21Lys (Ensembl:ENST00000529453) - c.62G>A (Ensembl:ENST00000529453) Source type: large scale study | |||||||
COSV107465615 | 21 | R>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697964G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152697964G>C Locations: - p.Arg21Thr (cosmic curated:ENST00000529453) - c.62G>C (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs199760621 | 22 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000006.12:g.152697968T>G, NC_000006.12:g.152697968T>A Codon: GAT/GAG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697968T>G, NC_000006.12:g.152697968T>A Locations: - p.Asp22Glu (Ensembl:ENST00000529453) - c.66T>G (Ensembl:ENST00000529453) - c.66T>A (Ensembl:ENST00000529453) Source type: large scale study | |||||||
rs549738043 | 22 | D>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000006.12:g.152697967A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697967A>G Locations: - p.Asp22Gly (Ensembl:ENST00000529453) - c.65A>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1351325671 | 22 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000006.12:g.152697966G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697966G>T Locations: - p.Asp22Tyr (Ensembl:ENST00000529453) - c.64G>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099720694 | 23 | R>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000006.12:g.152697970G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697970G>T Locations: - p.Arg23Ile (Ensembl:ENST00000529453) - c.68G>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1413579348 | 24 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000006.12:g.152697972A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697972A>T Locations: - p.Ile24Phe (Ensembl:ENST00000529453) - c.70A>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1413579348 | 24 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000006.12:g.152697972A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697972A>C Locations: - p.Ile24Leu (Ensembl:ENST00000529453) - c.70A>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs758289507 | 24 | I>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.235) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000006.12:g.152697973T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697973T>A Locations: - p.Ile24Asn (Ensembl:ENST00000529453) - c.71T>A (Ensembl:ENST00000529453) Source type: large scale study | |||||||
rs758289507 | 24 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000006.12:g.152697973T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697973T>C Locations: - p.Ile24Thr (Ensembl:ENST00000529453) - c.71T>C (Ensembl:ENST00000529453) Source type: large scale study | |||||||
COSV105296507 | 24 | I>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152697972A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152697972A>G Locations: - p.Ile24Val (cosmic curated:ENST00000529453) - c.70A>G (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs777881231 | 27 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000006.12:g.152697981C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697981C>A Locations: - p.Leu27Ile (Ensembl:ENST00000529453) - c.79C>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099720696 | 28 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000006.12:g.152697986T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697986T>A Locations: - p.Phe28Leu (Ensembl:ENST00000529453) - c.84T>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs568217820 | 29 | F>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000006.12:g.152697989C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697989C>G Locations: - p.Phe29Leu (Ensembl:ENST00000529453) - c.87C>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs771251962 | 29 | F>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000006.12:g.152697988T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697988T>C Locations: - p.Phe29Ser (Ensembl:ENST00000529453) - c.86T>C (Ensembl:ENST00000529453) Source type: large scale study | |||||||
COSV100924046 rs201979543 | 30 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: tolerated - low confidence (0.19) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000006.12:g.152697990G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697990G>A Locations: - p.D30N (NCI-TCGA:ENST00000529453) - p.Asp30Asn (Ensembl:ENST00000529453) - c.88G>A (Ensembl:ENST00000529453) Source type: large scale study | |||||||
rs201979543 | 30 | D>Y | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000006.12:g.152697990G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697990G>T Locations: - p.Asp30Tyr (Ensembl:ENST00000529453) - c.88G>T (Ensembl:ENST00000529453) Source type: large scale study | |||||||
rs1158561675 | 31 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000006.12:g.152697993A>T, NC_000006.12:g.152697993A>C Codon: ATA/TTA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697993A>T, NC_000006.12:g.152697993A>C Locations: - p.Ile31Leu (Ensembl:ENST00000529453) - c.91A>T (Ensembl:ENST00000529453) - c.91A>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1158561675 | 31 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000006.12:g.152697993A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697993A>G Locations: - p.Ile31Val (Ensembl:ENST00000529453) - c.91A>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099720699 | 33 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000006.12:g.152698000T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698000T>G Locations: - p.Val33Gly (Ensembl:ENST00000529453) - c.98T>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs368767660 | 33 | V>I | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000006.12:g.152697999G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152697999G>A Locations: - p.Val33Ile (Ensembl:ENST00000529453) - c.97G>A (Ensembl:ENST00000529453) Source type: large scale study | |||||||
COSV106517617 | 35 | L>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698006T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152698006T>A Locations: - p.Leu35His (cosmic curated:ENST00000529453) - c.104T>A (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891662 | 35 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698005C>A Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698005C>A Locations: - p.L35I (NCI-TCGA:ENST00000529453) - p.Leu35Ile (cosmic curated:ENST00000529453) - c.103C>A (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891807 | 37 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698012T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152698012T>C Locations: - p.Val37Ala (cosmic curated:ENST00000529453) - c.110T>C (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs775959799 | 38 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.152698015T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698015T>G Locations: - p.Phe38Cys (Ensembl:ENST00000529453) - c.113T>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV100924025 | 38 | F>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698014T>A Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698014T>A Locations: - p.F38I (NCI-TCGA:ENST00000529453) - p.Phe38Ile (cosmic curated:ENST00000529453) - c.112T>A (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV100924098 | 39 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698017C>T Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698017C>T Locations: - p.L39F (NCI-TCGA:ENST00000529453) - p.Leu39Phe (cosmic curated:ENST00000529453) - c.115C>T (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099720701 | 39 | L>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.383) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.152698018T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698018T>A Locations: - p.Leu39His (Ensembl:ENST00000529453) - c.116T>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099720703 | 40 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000006.12:g.152698020C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698020C>T Locations: - p.Leu40Phe (Ensembl:ENST00000529453) - c.118C>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs764673316 | 40 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.152698021T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698021T>C Locations: - p.Leu40Pro (Ensembl:ENST00000529453) - c.119T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099720704 | 41 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000006.12:g.152698024T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698024T>G Locations: - p.Phe41Cys (Ensembl:ENST00000529453) - c.122T>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs772912905 | 42 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000006.12:g.152698026C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698026C>T Locations: - p.Leu42Phe (Ensembl:ENST00000529453) - c.124C>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1483594922 | 42 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.152698027T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698027T>C Locations: - p.Leu42Pro (Ensembl:ENST00000529453) - c.125T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1483594922 | 42 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.152698027T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698027T>G Locations: - p.Leu42Arg (Ensembl:ENST00000529453) - c.125T>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65890779 | 43 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698030T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152698030T>C Locations: - p.Leu43Pro (cosmic curated:ENST00000529453) - c.128T>C (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099720705 | 45 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698036T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698036T>C Locations: - p.Leu45Pro (Ensembl:ENST00000529453) - c.134T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65890925 | 46 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698038G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152698038G>T Locations: - p.Val46Leu (cosmic curated:ENST00000529453) - c.136G>T (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs74296613 | 47 | D>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.152698042A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698042A>C Locations: - p.Asp47Ala (Ensembl:ENST00000529453) - c.140A>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099720706 | 47 | D>F | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.152698040_152698041insTTCGCATAAAA Codon: -/TTCGCATAAAA Consequence type: stop gained Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698040_152698041insTTCGCATAAAA Locations: - p.Asp47PhefsTer3 (Ensembl:ENST00000529453) - c.138_139insTTCGCATAAAA (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV100924081 COSV100924081,COSV65891341 COSV65891341 | 47 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698041G>C Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698041G>C Locations: - p.D47H (NCI-TCGA:ENST00000529453) - p.Asp47His (cosmic curated:ENST00000529453) - c.139G>C (cosmic curated:ENST00000529453) Source type: large scale study | |||||||
COSV100924081 COSV100924081,COSV65891341 COSV65891341 | 47 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698041G>A Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698041G>A Locations: - p.D47N (NCI-TCGA:ENST00000529453) - p.Asp47Asn (cosmic curated:ENST00000529453) - c.139G>A (cosmic curated:ENST00000529453) Source type: large scale study | |||||||
rs2099720707 | 47 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698041G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698041G>T Locations: - p.Asp47Tyr (Ensembl:ENST00000529453) - c.139G>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65892101 rs1369702765 | 48 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.05) Somatic: Yes Population frequencies: - MAF: 0.000004112 (gnomAD) Accession: NC_000006.12:g.152698044A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698044A>G Locations: - p.I48V (NCI-TCGA:ENST00000529453) - p.Ile48Val (Ensembl:ENST00000529453) - c.142A>G (Ensembl:ENST00000529453) Source type: large scale study | |||||||
rs2099720709 | 49 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698049G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698049G>A Locations: - p.Met49Ile (Ensembl:ENST00000529453) - c.147G>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs753446011 | 49 | M>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698048T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698048T>A Locations: - p.Met49Lys (Ensembl:ENST00000529453) - c.146T>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs753446011 | 49 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698048T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698048T>C Locations: - p.Met49Thr (Ensembl:ENST00000529453) - c.146T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs754609164 | 50 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.152698050G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698050G>C Locations: - p.Ala50Pro (Ensembl:ENST00000529453) - c.148G>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1293704300 | 50 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.152698051C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698051C>T Locations: - p.Ala50Val (Ensembl:ENST00000529453) - c.149C>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs752455853 | 51 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698055T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698055T>A Locations: - p.Asn51Lys (Ensembl:ENST00000529453) - c.153T>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs149334750 | 51 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698054A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698054A>G Locations: - p.Asn51Ser (Ensembl:ENST00000529453) - c.152A>G (Ensembl:ENST00000529453) Source type: large scale study | |||||||
rs2099720710 | 52 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698058C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698058C>G Locations: - p.Asn52Lys (Ensembl:ENST00000529453) - c.156C>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV100924041 | 52 | N>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698057A>C Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698057A>C Locations: - p.N52T (NCI-TCGA:ENST00000529453) - p.Asn52Thr (cosmic curated:ENST00000529453) - c.155A>C (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV105921513 | 53 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698060C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152698060C>T Locations: - p.Thr53Ile (cosmic curated:ENST00000529453) - c.158C>T (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs141640860 | 54 | T>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.152698062A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698062A>G Locations: - p.Thr54Ala (Ensembl:ENST00000529453) - c.160A>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs777684773 | 54 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698063C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698063C>T Locations: - p.Thr54Ile (Ensembl:ENST00000529453) - c.161C>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs565633215 | 55 | S>C | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698065A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698065A>T Locations: - p.Ser55Cys (Ensembl:ENST00000529453) - c.163A>T (Ensembl:ENST00000529453) Source type: large scale study | |||||||
COSV65890731 COSV65890731,COSV65891152 COSV65891152 | 55 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698065A>G Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698065A>G Locations: - p.S55G (NCI-TCGA:ENST00000529453) - p.Ser55Gly (cosmic curated:ENST00000529453) - c.163A>G (cosmic curated:ENST00000529453) Source type: large scale study | |||||||
rs200696320 | 55 | S>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698066G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698066G>T Locations: - p.Ser55Ile (Ensembl:ENST00000529453) - c.164G>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs200696320 | 55 | S>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.393) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000006.12:g.152698066G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698066G>A Locations: - p.Ser55Asn (Ensembl:ENST00000529453) - c.164G>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65890731 COSV65890731,COSV65891152 COSV65891152 | 55 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698065A>C Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698065A>C Locations: - p.S55R (NCI-TCGA:ENST00000529453) - p.Ser55Arg (cosmic curated:ENST00000529453) - c.163A>C (cosmic curated:ENST00000529453) Source type: large scale study | |||||||
rs200696320 | 55 | S>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000006.12:g.152698066G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698066G>C Locations: - p.Ser55Thr (Ensembl:ENST00000529453) - c.164G>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV107465611 | 56 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698068T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152698068T>G Locations: - p.Leu56Val (cosmic curated:ENST00000529453) - c.166T>G (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891240 | 57 | G>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698072G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152698072G>C Locations: - p.Gly57Ala (cosmic curated:ENST00000529453) - c.170G>C (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV100924082 COSV65891240 rs1031652406 | 57 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000006.12:g.152698072G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698072G>A Locations: - p.G57E (NCI-TCGA:ENST00000529453) - p.Gly57Glu (Ensembl:ENST00000529453) - c.170G>A (Ensembl:ENST00000529453) Source type: large scale study | |||||||
COSV100924084 | 57 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698071G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152698071G>T Locations: - p.Gly57Trp (cosmic curated:ENST00000529453) - c.169G>T (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1423867961 | 58 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.152698074A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698074A>T Locations: - p.Ser58Cys (Ensembl:ENST00000529453) - c.172A>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV108217404 rs1304070149 | 59 | P>A | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000006.12:g.152698077C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698077C>G Locations: - p.Pro59Ala (Ensembl:ENST00000529453) - c.175C>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891342 | 60 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698081G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152698081G>A Locations: - p.Trp60Ter (cosmic curated:ENST00000529453) - c.179G>A (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099720714 | 60 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698080T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698080T>C Locations: - p.Trp60Arg (Ensembl:ENST00000529453) - c.178T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65892096 | 62 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698086G>A Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698086G>A Locations: - p.E62K (NCI-TCGA:ENST00000529453) - p.Glu62Lys (cosmic curated:ENST00000529453) - c.184G>A (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1172365837 COSV100924079 COSV100924079,COSV100924102,COSV65890989 COSV100924102 COSV65890989 | 63 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | gnomAD NCI-TCGA Cosmic cosmic curated | |||
Consequence: stop gained Somatic: Yes Accession: NC_000006.12:g.152698090_152698091insATAA, NC_000006.12:g.152698091C>G Codon: AAC/AAATAAC Consequence type: stop gained Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698090_152698091insATAA, NC_000006.12:g.152698091C>G Locations: - p.Asn63LysfsTer2 (Ensembl:ENST00000529453) - c.188_189insATAA (Ensembl:ENST00000529453) - p.N63K (NCI-TCGA:ENST00000529453) - p.Asn63Lys (cosmic curated:ENST00000529453) - c.189C>G (cosmic curated:ENST00000529453) Source type: large scale study | |||||||
COSV65890989 rs1397723133 | 63 | N>K | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000006.12:g.152698091C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698091C>A Locations: - p.Asn63Lys (Ensembl:ENST00000529453) - c.189C>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1464887839 | 64 | F>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.152698092_152698093insAA Codon: TTT/TAATT Consequence type: stop gained Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698092_152698093insAA Locations: - p.Phe64Ter (Ensembl:ENST00000529453) - c.190_191insAA (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV100924103 COSV100924103,COSV65891763 COSV65891763 | 64 | F>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698092T>A Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698092T>A Locations: - p.F64I (NCI-TCGA:ENST00000529453) - p.Phe64Ile (cosmic curated:ENST00000529453) - c.190T>A (cosmic curated:ENST00000529453) Source type: large scale study | |||||||
rs1583960108 | 64 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698092T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698092T>C Locations: - p.Phe64Leu (Ensembl:ENST00000529453) - c.190T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs1428636820 | 64 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698093T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698093T>C Locations: - p.Phe64Ser (Ensembl:ENST00000529453) - c.191T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV100924103 COSV100924103,COSV65891763 COSV65891763 | 64 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698092T>G Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698092T>G Locations: - p.F64V (NCI-TCGA:ENST00000529453) - p.Phe64Val (cosmic curated:ENST00000529453) - c.190T>G (cosmic curated:ENST00000529453) Source type: large scale study | |||||||
COSV100924099 rs911548436 | 65 | W>C | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.152698097G>T, NC_000006.12:g.152698097G>C Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698097G>T, NC_000006.12:g.152698097G>C Locations: - p.Trp65Cys (cosmic curated:ENST00000529453) - c.195G>T (cosmic curated:ENST00000529453) - p.Trp65Cys (Ensembl:ENST00000529453) - c.195G>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs557712597 | 65 | W>L | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.152698096G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698096G>T Locations: - p.Trp65Leu (Ensembl:ENST00000529453) - c.194G>T (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs770029443 | 66 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.152698098G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152698098G>A Locations: - p.Gly66Arg (Ensembl:ENST00000529453) - c.196G>A (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
COSV65891318 | 66 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.152698098G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.152698098G>T Locations: - p.Gly66Trp (cosmic curated:ENST00000529453) - c.196G>T (cosmic curated:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs2099724944 | 68 | *>R | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000006.12:g.152722768T>C Codon: TGA/CGA Consequence type: stop lost Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152722768T>C Locations: - p.Ter68ArgextTer11 (Ensembl:ENST00000529453) - c.202T>C (Ensembl:ENST00000529453) Source type: large scale study Cross-references: | |||||||
rs547000868 | 68 | *>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000006.12:g.152722770A>G Codon: TGA/TGG Consequence type: stop lost Cytogenetic band: 6q25.2 Genomic location: NC_000006.12:g.152722770A>G Locations: - p.Ter68TrpextTer11 (Ensembl:ENST00000529453) - c.204A>G (Ensembl:ENST00000529453) Source type: large scale study Cross-references: |