Q5TA82 · LCE2D_HUMAN
- ProteinLate cornified envelope protein 2D
- GeneLCE2D
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids110 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs779961005 | 3 | C>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.152664114C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664114C>A Locations: - p.Cys3Ter (Ensembl:ENST00000368784) - c.9C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1557801043 | 3 | C>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000001.11:g.152664112T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664112T>G Locations: - p.Cys3Gly (Ensembl:ENST00000368784) - c.7T>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs747138495 | 5 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000001.11:g.152664118C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664118C>G Locations: - p.Gln5Glu (Ensembl:ENST00000368784) - c.13C>G (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs765791584 | 6 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000001.11:g.152664121A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664121A>C Locations: - p.Asn6His (Ensembl:ENST00000368784) - c.16A>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1209753419 | 6 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000001.11:g.152664123C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664123C>A Locations: - p.Asn6Lys (Ensembl:ENST00000368784) - c.18C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs769563396 | 6 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000001.11:g.152664122A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664122A>G Locations: - p.Asn6Ser (Ensembl:ENST00000368784) - c.17A>G (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs773289769 | 7 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000001.11:g.152664124C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664124C>A Locations: - p.Gln7Lys (Ensembl:ENST00000368784) - c.19C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs889002049 | 7 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000001.11:g.152664125A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664125A>G Locations: - p.Gln7Arg (Ensembl:ENST00000368784) - c.20A>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1174070562 | 8 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.152664129G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664129G>T Locations: - p.Gln8His (Ensembl:ENST00000368784) - c.24G>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs749306395 | 9 | Q>E | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.79) Somatic: No Accession: NC_000001.11:g.152664130C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664130C>G Locations: - p.Gln9Glu (Ensembl:ENST00000368784) - c.25C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs770837577 | 10 | C>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664135C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664135C>G Locations: - p.Cys10Trp (Ensembl:ENST00000368784) - c.30C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648489567 | 10 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000001.11:g.152664134G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664134G>A Locations: - p.Cys10Tyr (Ensembl:ENST00000368784) - c.29G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1237586745 | 11 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664138G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664138G>C Locations: - p.Gln11His (Ensembl:ENST00000368784) - c.33G>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1571064843 | 11 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000001.11:g.152664136C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664136C>A Locations: - p.Gln11Lys (Ensembl:ENST00000368784) - c.31C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
TCGA novel | 11 | Q>S | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.152664135del Consequence type: frameshift Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664135del Locations: - c.31del (NCI-TCGA:ENST00000368784) - p.Q11Sfs*63 (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs774336413 | 12 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000001.11:g.152664139C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664139C>G Locations: - p.Pro12Ala (Ensembl:ENST00000368784) - c.34C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs759080764 | 12 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000001.11:g.152664140C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664140C>A Locations: - p.Pro12His (Ensembl:ENST00000368784) - c.35C>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
TCGA novel rs1424249773 | 13 | P>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: frameshift Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000001.11:g.152664139del, NC_000001.11:g.152664143C>T Consequence type: frameshift Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664139del, NC_000001.11:g.152664143C>T Locations: - c.38del (NCI-TCGA:ENST00000368784) - p.P13Lfs*61 (NCI-TCGA:ENST00000368784) - p.Pro13Leu (Ensembl:ENST00000368784) - c.38C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs1648490234 | 13 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000001.11:g.152664142C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664142C>T Locations: - p.Pro13Ser (Ensembl:ENST00000368784) - c.37C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs371955803 | 14 | P>S | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000001.11:g.152664145C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664145C>T Locations: - p.Pro14Ser (Ensembl:ENST00000368784) - c.40C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs1194643038 | 15 | K>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.152664148A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664148A>T Locations: - p.Lys15Ter (Ensembl:ENST00000368784) - c.43A>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs141067709 | 15 | K>N | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.152664150A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664150A>C Locations: - p.Lys15Asn (Ensembl:ENST00000368784) - c.45A>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1200646295 | 17 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.8) Somatic: No Accession: NC_000001.11:g.152664155C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664155C>T Locations: - p.Pro17Leu (Ensembl:ENST00000368784) - c.50C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV64228979 rs537040687 rs537040687,COSV64228979 | 17 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.65) - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.75) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000001.11:g.152664154C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664154C>T Locations: - p.P17S (NCI-TCGA:ENST00000368784) - p.Pro17Ser (Ensembl:ENST00000368784) - c.49C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV64228820 COSV64228862 rs754335373 | 18 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000001.11:g.152664158C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664158C>A Locations: - p.P18H (NCI-TCGA:ENST00000368784) - p.Pro18His (Ensembl:ENST00000368784) - c.53C>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV64228820 COSV64228820,COSV64228862 COSV64228862 | 18 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664158C>T Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664158C>T Locations: - c.53C>T (NCI-TCGA:ENST00000368784) - p.P18L (NCI-TCGA:ENST00000368784) Source type: large scale study | |||||||
COSV64228816 | 18 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000001.11:g.152664157C>A Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664157C>A Locations: - c.52C>A (NCI-TCGA:ENST00000368784) - p.P18T (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648492777 | 19 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000001.11:g.152664161A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664161A>G Locations: - p.Lys19Arg (Ensembl:ENST00000368784) - c.56A>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs762362954 | 20 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000001.11:g.152664164G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664164G>A Locations: - p.Cys20Tyr (Ensembl:ENST00000368784) - c.59G>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs750823147 | 21 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000001.11:g.152664166A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664166A>G Locations: - p.Thr21Ala (Ensembl:ENST00000368784) - c.61A>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs768511614 | 22 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000001.11:g.152664169C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664169C>G Locations: - p.Pro22Ala (Ensembl:ENST00000368784) - c.64C>G (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs751529775 | 22 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000001.11:g.152664170C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664170C>G Locations: - p.Pro22Arg (Ensembl:ENST00000368784) - c.65C>G (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV100909567 | 23 | K>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000001.11:g.152664172A>T Consequence type: stop gained Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664172A>T Locations: - c.67A>T (NCI-TCGA:ENST00000368784) - p.K23* (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648493259 | 24 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664176G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664176G>A Locations: - p.Cys24Tyr (Ensembl:ENST00000368784) - c.71G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1319135627 | 25 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000001.11:g.152664179C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664179C>T Locations: - p.Pro25Leu (Ensembl:ENST00000368784) - c.74C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1319135627 | 25 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000001.11:g.152664179C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664179C>A Locations: - p.Pro25Gln (Ensembl:ENST00000368784) - c.74C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1262962257 | 26 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000001.11:g.152664182C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664182C>T Locations: - p.Pro26Leu (Ensembl:ENST00000368784) - c.77C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1262962257 | 26 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000001.11:g.152664182C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664182C>G Locations: - p.Pro26Arg (Ensembl:ENST00000368784) - c.77C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV100909541 COSV100909541,COSV64229161 COSV64229161 | 27 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.152664186G>C Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664186G>C Locations: - c.81G>C (NCI-TCGA:ENST00000368784) - p.K27N (NCI-TCGA:ENST00000368784) Source type: large scale study | |||||||
rs1225274807 | 27 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000001.11:g.152664185A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664185A>G Locations: - p.Lys27Arg (Ensembl:ENST00000368784) - c.80A>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
TCGA novel | 28 | C>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.387) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000001.11:g.152664187T>C Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664187T>C Locations: - c.82T>C (NCI-TCGA:ENST00000368784) - p.C28R (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1201884966 | 29 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000001.11:g.152664191C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664191C>T Locations: - p.Pro29Leu (Ensembl:ENST00000368784) - c.86C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV64229250 rs550712261 | 29 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: tolerated - low confidence (0.66) - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000001.11:g.152664190C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664190C>T Locations: - p.P29S (NCI-TCGA:ENST00000368784) - p.Pro29Ser (Ensembl:ENST00000368784) - c.85C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs550712261 | 29 | P>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000001.11:g.152664190C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664190C>A Locations: - p.Pro29Thr (Ensembl:ENST00000368784) - c.85C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs570613049 | 30 | P>H | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664194C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664194C>A Locations: - p.Pro30His (Ensembl:ENST00000368784) - c.89C>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs150498841 | 30 | P>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.152664193C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664193C>A Locations: - p.Pro30Thr (Ensembl:ENST00000368784) - c.88C>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs745698541 | 31 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000001.11:g.152664197A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664197A>G Locations: - p.Lys31Arg (Ensembl:ENST00000368784) - c.92A>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648494244 | 32 | C>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000001.11:g.152664199T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664199T>G Locations: - p.Cys32Gly (Ensembl:ENST00000368784) - c.94T>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs552762983 | 32 | C>Y | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000001.11:g.152664200G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664200G>A Locations: - p.Cys32Tyr (Ensembl:ENST00000368784) - c.95G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1198383786 | 33 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000001.11:g.152664203C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664203C>T Locations: - p.Pro33Leu (Ensembl:ENST00000368784) - c.98C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs775211879 | 34 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.97) Somatic: No Accession: NC_000001.11:g.152664205C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664205C>G Locations: - p.Pro34Ala (Ensembl:ENST00000368784) - c.100C>G (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs760307948 | 34 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.64) Somatic: No Accession: NC_000001.11:g.152664206C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664206C>T Locations: - p.Pro34Leu (Ensembl:ENST00000368784) - c.101C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs775211879 | 34 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000001.11:g.152664205C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664205C>T Locations: - p.Pro34Ser (Ensembl:ENST00000368784) - c.100C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs768138746 | 35 | Q>E | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000001.11:g.152664208C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664208C>G Locations: - p.Gln35Glu (Ensembl:ENST00000368784) - c.103C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs776162674 | 36 | C>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000001.11:g.152664213C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664213C>G Locations: - p.Cys36Trp (Ensembl:ENST00000368784) - c.108C>G (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs762273087 | 37 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000001.11:g.152664215C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664215C>T Locations: - p.Pro37Leu (Ensembl:ENST00000368784) - c.110C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs750699528 | 38 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.152664218C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664218C>A Locations: - p.Ala38Asp (Ensembl:ENST00000368784) - c.113C>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs140332010 | 38 | A>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.152664217G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664217G>T Locations: - p.Ala38Ser (Ensembl:ENST00000368784) - c.112G>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs140332010 | 38 | A>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000001.11:g.152664217G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664217G>A Locations: - p.Ala38Thr (Ensembl:ENST00000368784) - c.112G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs750699528 | 38 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.152664218C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664218C>T Locations: - p.Ala38Val (Ensembl:ENST00000368784) - c.113C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
TCGA novel | 39 | P>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated - low confidence (0.66) Somatic: No Accession: NC_000001.11:g.152664221C>A Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664221C>A Locations: - c.116C>A (NCI-TCGA:ENST00000368784) - p.P39Q (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1648495009 | 40 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000001.11:g.152664223T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664223T>C Locations: - p.Cys40Arg (Ensembl:ENST00000368784) - c.118T>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV100909539 | 40 | C>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: tolerated - low confidence (0.54) Somatic: Yes Accession: NC_000001.11:g.152664224G>C Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664224G>C Locations: - c.119G>C (NCI-TCGA:ENST00000368784) - p.C40S (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648495066 | 40 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000001.11:g.152664224G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664224G>A Locations: - p.Cys40Tyr (Ensembl:ENST00000368784) - c.119G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs766724137 | 41 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000001.11:g.152664227C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664227C>T Locations: - p.Ser41Phe (Ensembl:ENST00000368784) - c.122C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs755302495 | 42 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.152664230C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664230C>T Locations: - p.Pro42Leu (Ensembl:ENST00000368784) - c.125C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs146516629 | 42 | P>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.152664229C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664229C>A Locations: - p.Pro42Thr (Ensembl:ENST00000368784) - c.124C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs781390892 | 43 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.152664232G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664232G>C Locations: - p.Ala43Pro (Ensembl:ENST00000368784) - c.127G>C (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs781390892 | 43 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.152664232G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664232G>A Locations: - p.Ala43Thr (Ensembl:ENST00000368784) - c.127G>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs757210788 | 44 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000001.11:g.152664236T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664236T>C Locations: - p.Val44Ala (Ensembl:ENST00000368784) - c.131T>C (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs752856798 | 44 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000001.11:g.152664235G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664235G>A Locations: - p.Val44Ile (Ensembl:ENST00000368784) - c.130G>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs752856798 | 44 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000001.11:g.152664235G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664235G>C Locations: - p.Val44Leu (Ensembl:ENST00000368784) - c.130G>C (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV64228851 | 45 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.746) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000001.11:g.152664239C>G Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664239C>G Locations: - c.134C>G (NCI-TCGA:ENST00000368784) - p.S45C (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648496541 | 45 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.152664238T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664238T>C Locations: - p.Ser45Pro (Ensembl:ENST00000368784) - c.133T>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1557801153 | 45 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.152664239C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664239C>A Locations: - p.Ser45Tyr (Ensembl:ENST00000368784) - c.134C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648496728 | 46 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000001.11:g.152664241T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664241T>G Locations: - p.Ser46Ala (Ensembl:ENST00000368784) - c.136T>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV64229013 rs1557801156 rs1557801156,COSV64229013 | 46 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) - PolyPhen: benign (0.001) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000001.11:g.152664242C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664242C>T Locations: - p.S46F (NCI-TCGA:ENST00000368784) - p.Ser46Phe (Ensembl:ENST00000368784) - c.137C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1339370255 | 48 | C>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000001.11:g.152664249T>G Codon: TGT/TGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664249T>G Locations: - p.Cys48Trp (Ensembl:ENST00000368784) - c.144T>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs745581588 | 49 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000001.11:g.152664250G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664250G>T Locations: - p.Gly49Cys (Ensembl:ENST00000368784) - c.145G>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1483339894 | 49 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000001.11:g.152664251G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664251G>A Locations: - p.Gly49Asp (Ensembl:ENST00000368784) - c.146G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs745581588 | 49 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000001.11:g.152664250G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664250G>A Locations: - p.Gly49Ser (Ensembl:ENST00000368784) - c.145G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648497577 | 50 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000001.11:g.152664253C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664253C>T Locations: - p.Pro50Ser (Ensembl:ENST00000368784) - c.148C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV64228940 rs771895548 | 51 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.16) - PolyPhen: probably damaging (0.955) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000001.11:g.152664257G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664257G>T Locations: - p.S51I (NCI-TCGA:ENST00000368784) - p.Ser51Ile (Ensembl:ENST00000368784) - c.152G>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs771895548 | 51 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000001.11:g.152664257G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664257G>A Locations: - p.Ser51Asn (Ensembl:ENST00000368784) - c.152G>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs201773605 | 51 | S>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000001.11:g.152664258C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664258C>G Locations: - p.Ser51Arg (Ensembl:ENST00000368784) - c.153C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs771895548 | 51 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.9) Somatic: No Accession: NC_000001.11:g.152664257G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664257G>C Locations: - p.Ser51Thr (Ensembl:ENST00000368784) - c.152G>C (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV100909517 | 52 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: tolerated - low confidence (0.08) Somatic: Yes Accession: NC_000001.11:g.152664260C>G Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664260C>G Locations: - c.155C>G (NCI-TCGA:ENST00000368784) - p.S52C (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648497831 | 52 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000001.11:g.152664259T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664259T>A Locations: - p.Ser52Thr (Ensembl:ENST00000368784) - c.154T>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1349780752 | 54 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000001.11:g.152664265A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664265A>G Locations: - p.Ser54Gly (Ensembl:ENST00000368784) - c.160A>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs746649201 | 54 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000001.11:g.152664266G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664266G>A Locations: - p.Ser54Asn (Ensembl:ENST00000368784) - c.161G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV64229138 | 54 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.15) Somatic: Yes Accession: NC_000001.11:g.152664267C>G, NC_000001.11:g.152664267C>A Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664267C>G, NC_000001.11:g.152664267C>A Locations: - c.162C>G (NCI-TCGA:ENST00000368784) - p.S54R (NCI-TCGA:ENST00000368784) - c.162C>A (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs988002737 | 55 | C>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.152664270C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664270C>A Locations: - p.Cys55Ter (Ensembl:ENST00000368784) - c.165C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs768333235 | 57 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000001.11:g.152664275G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664275G>C Locations: - p.Gly57Ala (Ensembl:ENST00000368784) - c.170G>C (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs1557801199 | 57 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.56) - PolyPhen: benign (0.02) - SIFT: tolerated - low confidence (0.62) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000001.11:g.152664274G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664274G>A Locations: - p.G57S (NCI-TCGA:ENST00000368784) - p.Gly57Ser (Ensembl:ENST00000368784) - c.169G>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs1314659193 | 58 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664278C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664278C>G Locations: - p.Pro58Arg (Ensembl:ENST00000368784) - c.173C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
TCGA novel | 59 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.612) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.152664280A>T Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664280A>T Locations: - c.175A>T (NCI-TCGA:ENST00000368784) - p.S59C (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1303090564 | 59 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.152664282C>G, NC_000001.11:g.152664282C>A Codon: AGC/AGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664282C>G, NC_000001.11:g.152664282C>A Locations: - p.Ser59Arg (Ensembl:ENST00000368784) - c.177C>G (Ensembl:ENST00000368784) - c.177C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648498586 | 61 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000001.11:g.152664286G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664286G>T Locations: - p.Gly61Trp (Ensembl:ENST00000368784) - c.181G>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1389249159 | 62 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.75) Somatic: No Accession: NC_000001.11:g.152664290G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664290G>A Locations: - p.Gly62Asp (Ensembl:ENST00000368784) - c.185G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs761330190 | 62 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.56) Somatic: No Accession: NC_000001.11:g.152664289G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664289G>A Locations: - p.Gly62Ser (Ensembl:ENST00000368784) - c.184G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs770224529 | 63 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664293G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664293G>A Locations: - p.Cys63Tyr (Ensembl:ENST00000368784) - c.188G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs773767173 | 64 | C>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.152664297C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664297C>A Locations: - p.Cys64Ter (Ensembl:ENST00000368784) - c.192C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648498950 | 65 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000001.11:g.152664298A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664298A>T Locations: - p.Ser65Cys (Ensembl:ENST00000368784) - c.193A>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs763431482 | 65 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000001.11:g.152664299G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664299G>T Locations: - p.Ser65Ile (Ensembl:ENST00000368784) - c.194G>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs763431482 | 65 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000001.11:g.152664299G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664299G>A Locations: - p.Ser65Asn (Ensembl:ENST00000368784) - c.194G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs763431482 | 65 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.68) Somatic: No Accession: NC_000001.11:g.152664299G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664299G>C Locations: - p.Ser65Thr (Ensembl:ENST00000368784) - c.194G>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1232014098 | 66 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.152664302C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664302C>G Locations: - p.Ser66Cys (Ensembl:ENST00000368784) - c.197C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1225809254 | 67 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.152664305G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664305G>C Locations: - p.Gly67Ala (Ensembl:ENST00000368784) - c.200G>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1225809254 | 67 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664305G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664305G>A Locations: - p.Gly67Glu (Ensembl:ENST00000368784) - c.200G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs759792701 | 68 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000001.11:g.152664308G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664308G>C Locations: - p.Gly68Ala (Ensembl:ENST00000368784) - c.203G>C (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs1395699057 | 68 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000001.11:g.152664307G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664307G>T Locations: - p.Gly68Cys (Ensembl:ENST00000368784) - c.202G>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1263562666 | 71 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.152664317G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664317G>A Locations: - p.Cys71Tyr (Ensembl:ENST00000368784) - c.212G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs756264813 | 72 | C>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.152664321C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664321C>A Locations: - p.Cys72Ter (Ensembl:ENST00000368784) - c.216C>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs148290788 | 72 | C>S | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.152664320G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664320G>C Locations: - p.Cys72Ser (Ensembl:ENST00000368784) - c.215G>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648499951 | 74 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000001.11:g.152664326G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664326G>C Locations: - p.Ser74Thr (Ensembl:ENST00000368784) - c.221G>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs750357233 | 76 | H>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.152664331C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664331C>G Locations: - p.His76Asp (Ensembl:ENST00000368784) - c.226C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1439992345 | 77 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.152664334A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664334A>G Locations: - p.Arg77Gly (Ensembl:ENST00000368784) - c.229A>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs371242377 | 77 | R>K | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000001.11:g.152664335G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664335G>A Locations: - p.Arg77Lys (Ensembl:ENST00000368784) - c.230G>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs1234945999 | 78 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000001.11:g.152664338C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664338C>T Locations: - p.Pro78Leu (Ensembl:ENST00000368784) - c.233C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV64229065 | 78 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated - low confidence (0.5) Somatic: Yes Accession: NC_000001.11:g.152664337C>T Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664337C>T Locations: - c.232C>T (NCI-TCGA:ENST00000368784) - p.P78S (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1557801236 | 78 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000001.11:g.152664337C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664337C>A Locations: - p.Pro78Thr (Ensembl:ENST00000368784) - c.232C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs544222876 | 79 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.152664340C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664340C>T Locations: - p.Arg79Cys (Ensembl:ENST00000368784) - c.235C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV100909563 rs544222876 | 79 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.59) - PolyPhen: unknown (0) - SIFT: tolerated (0.39) Somatic: No Population frequencies: - MAF: 0.00001201 (gnomAD) Accession: NC_000001.11:g.152664340C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664340C>G Locations: - p.R79G (NCI-TCGA:ENST00000368784) - p.Arg79Gly (Ensembl:ENST00000368784) - c.235C>G (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV64228954 COSV64229059 rs754570664 | 79 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.62) - PolyPhen: unknown (0) - SIFT: tolerated (0.38) Somatic: No Population frequencies: - MAF: 0.00002401 (gnomAD) Accession: NC_000001.11:g.152664341G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664341G>A Locations: - p.R79H (NCI-TCGA:ENST00000368784) - p.Arg79His (Ensembl:ENST00000368784) - c.236G>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV64228954 COSV64228954,COSV64229059 COSV64229059 | 79 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000001.11:g.152664341G>T Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664341G>T Locations: - c.236G>T (NCI-TCGA:ENST00000368784) - p.R79L (NCI-TCGA:ENST00000368784) Source type: large scale study | |||||||
rs754570664 | 79 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000001.11:g.152664341G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664341G>C Locations: - p.Arg79Pro (Ensembl:ENST00000368784) - c.236G>C (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs780830348 | 80 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.152664343C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664343C>T Locations: - p.Leu80Phe (Ensembl:ENST00000368784) - c.238C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV100909560 COSV100909560,COSV64228826 COSV64228826 | 80 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000001.11:g.152664343C>G Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664343C>G Locations: - c.238C>G (NCI-TCGA:ENST00000368784) - p.L80V (NCI-TCGA:ENST00000368784) Source type: large scale study | |||||||
TCGA novel | 81 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000001.11:g.152664348C>A Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664348C>A Locations: - c.243C>A (NCI-TCGA:ENST00000368784) - p.F81L (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs747867251 | 82 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000001.11:g.152664350A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664350A>G Locations: - p.His82Arg (Ensembl:ENST00000368784) - c.245A>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs564031315 | 83 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.152664352C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664352C>G Locations: - p.Arg83Gly (Ensembl:ENST00000368784) - c.247C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs150423476 | 83 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000001.11:g.152664353G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664353G>T Locations: - p.Arg83Leu (Ensembl:ENST00000368784) - c.248G>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs150423476 | 83 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000001.11:g.152664353G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664353G>A Locations: - p.Arg83Gln (Ensembl:ENST00000368784) - c.248G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV64228830 rs564031315 | 83 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.48) - SIFT: tolerated - low confidence (0.08) - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000001.11:g.152664352C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664352C>T Locations: - p.R83W (NCI-TCGA:ENST00000368784) - p.Arg83Trp (Ensembl:ENST00000368784) - c.247C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV64228990 rs1648501276 | 84 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.18) Somatic: Yes Accession: NC_000001.11:g.152664355C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664355C>T Locations: - p.R84C (NCI-TCGA:ENST00000368784) - p.Arg84Cys (Ensembl:ENST00000368784) - c.250C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV64228990 | 84 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.33) Somatic: Yes Accession: NC_000001.11:g.152664355C>G Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664355C>G Locations: - c.250C>G (NCI-TCGA:ENST00000368784) - p.R84G (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs921497043 | 84 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000001.11:g.152664356G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664356G>A Locations: - p.Arg84His (Ensembl:ENST00000368784) - c.251G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs921497043 | 84 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000001.11:g.152664356G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664356G>T Locations: - p.Arg84Leu (Ensembl:ENST00000368784) - c.251G>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs202193977 | 85 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000001.11:g.152664358C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664358C>G Locations: - p.Arg85Gly (Ensembl:ENST00000368784) - c.253C>G (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs113433987 | 85 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated - low confidence (0.39) - PolyPhen: unknown (0) - SIFT: tolerated (0.46) Somatic: No Population frequencies: - MAF: 0.00004012 (gnomAD) Accession: NC_000001.11:g.152664359G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664359G>A Locations: - p.R85Q (NCI-TCGA:ENST00000368784) - p.Arg85Gln (Ensembl:ENST00000368784) - c.254G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs202193977 | 85 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.152664358C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664358C>T Locations: - p.Arg85Trp (Ensembl:ENST00000368784) - c.253C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs1394895114 | 86 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000001.11:g.152664363C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664363C>G Locations: - p.His86Gln (Ensembl:ENST00000368784) - c.258C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648501733 | 87 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.152664366G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664366G>C Locations: - p.Gln87His (Ensembl:ENST00000368784) - c.261G>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs9793541 | 88 | S>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000001.11:g.152664367A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664367A>T Locations: - p.Ser88Cys (Ensembl:ENST00000368784) - c.262A>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs9793541 | 88 | S>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000001.11:g.152664367A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664367A>G Locations: - p.Ser88Gly (Ensembl:ENST00000368784) - c.262A>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV64229171 COSV99056576 rs761035347 | 88 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.33) - PolyPhen: unknown (0) - SIFT: tolerated (0.38) Somatic: No Population frequencies: - MAF: 0.000004013 (gnomAD) Accession: NC_000001.11:g.152664368G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664368G>A Locations: - p.S88N (NCI-TCGA:ENST00000368784) - p.Ser88Asn (Ensembl:ENST00000368784) - c.263G>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV64228811 | 89 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.74) Somatic: Yes Accession: NC_000001.11:g.152664370C>A Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664370C>A Locations: - c.265C>A (NCI-TCGA:ENST00000368784) - p.P89T (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV64228947 COSV64229148 rs753899892 | 90 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated - low confidence (0.62) - PolyPhen: unknown (0) - SIFT: tolerated (0.52) Somatic: No Population frequencies: - MAF: 0.00002004 (gnomAD) Accession: NC_000001.11:g.152664373G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664373G>A Locations: - p.D90N (NCI-TCGA:ENST00000368784) - p.Asp90Asn (Ensembl:ENST00000368784) - c.268G>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs766245821 | 91 | C>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.152664378C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664378C>A Locations: - p.Cys91Ter (Ensembl:ENST00000368784) - c.273C>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs1406751947 | 91 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.152664377G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664377G>A Locations: - p.Cys91Tyr (Ensembl:ENST00000368784) - c.272G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
VAR_053483 rs11205064 | 92 | C>Y | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000001.11:g.152664380G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664380G>A Locations: - p.Cys92Tyr (UniProt:Q5TA82) Source type: mixed Cross-references: | |||||||
rs754765179 | 93 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000001.11:g.152664384G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664384G>C Locations: - p.Glu93Asp (Ensembl:ENST00000368784) - c.279G>C (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV100909533 rs1400865861 | 93 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.08) - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.152664382G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664382G>A Locations: - p.E93K (NCI-TCGA:ENST00000368784) - p.Glu93Lys (Ensembl:ENST00000368784) - c.277G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
TCGA novel | 94 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000001.11:g.152664387T>G Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664387T>G Locations: - c.282T>G (NCI-TCGA:ENST00000368784) - p.S94R (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV64229035 | 95 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000001.11:g.152664388G>T Consequence type: stop gained Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664388G>T Locations: - c.283G>T (NCI-TCGA:ENST00000368784) - p.E95* (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1157147972 | 95 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000001.11:g.152664389A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664389A>C Locations: - p.Glu95Ala (Ensembl:ENST00000368784) - c.284A>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs372195789 | 96 | P>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664392C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664392C>A Locations: - p.Pro96His (Ensembl:ENST00000368784) - c.287C>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV64229410 rs372195789 | 96 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.69) - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.000008037 (gnomAD) Accession: NC_000001.11:g.152664392C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664392C>T Locations: - p.P96L (NCI-TCGA:ENST00000368784) - p.Pro96Leu (Ensembl:ENST00000368784) - c.287C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV64228922 rs781026851 | 96 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.93) - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.00001206 (gnomAD) Accession: NC_000001.11:g.152664391C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664391C>T Locations: - p.P96S (NCI-TCGA:ENST00000368784) - p.Pro96Ser (Ensembl:ENST00000368784) - c.286C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs781026851 | 96 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000001.11:g.152664391C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664391C>A Locations: - p.Pro96Thr (Ensembl:ENST00000368784) - c.286C>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
TCGA novel rs1648503854 | 98 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0.01) - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000001.11:g.152664397G>C, NC_000001.11:g.152664397G>A Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664397G>C, NC_000001.11:g.152664397G>A Locations: - c.292G>C (NCI-TCGA:ENST00000368784) - p.G98R (NCI-TCGA:ENST00000368784) - p.Gly98Arg (Ensembl:ENST00000368784) - c.292G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1432993654 | 98 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.152664398G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664398G>T Locations: - p.Gly98Val (Ensembl:ENST00000368784) - c.293G>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs201058957 | 99 | A>G | Likely benign (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000001.11:g.152664401C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664401C>G Locations: - p.Ala99Gly (Ensembl:ENST00000368784) - c.296C>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs777298681 | 99 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000001.11:g.152664400G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664400G>A Locations: - p.Ala99Thr (Ensembl:ENST00000368784) - c.295G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs201058957 | 99 | A>V | Likely benign (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000001.11:g.152664401C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664401C>T Locations: - p.Ala99Val (Ensembl:ENST00000368784) - c.296C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1161850395 | 100 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664404C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664404C>A Locations: - p.Ser100Tyr (Ensembl:ENST00000368784) - c.299C>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs148605385 | 102 | C>F | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.152664410G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664410G>T Locations: - p.Cys102Phe (Ensembl:ENST00000368784) - c.305G>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs962345742 | 104 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.152664416A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664416A>G Locations: - p.His104Arg (Ensembl:ENST00000368784) - c.311A>G (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1300559976 | 104 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.152664415C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664415C>T Locations: - p.His104Tyr (Ensembl:ENST00000368784) - c.310C>T (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs150742175 | 106 | S>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.152664422C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664422C>G Locations: - p.Ser106Cys (Ensembl:ENST00000368784) - c.317C>G (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs150742175 | 106 | S>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000001.11:g.152664422C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664422C>T Locations: - p.Ser106Phe (Ensembl:ENST00000368784) - c.317C>T (Ensembl:ENST00000368784) Source type: large scale study | |||||||
rs1648507689 | 107 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000001.11:g.152664425G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664425G>C Locations: - p.Gly107Ala (Ensembl:ENST00000368784) - c.320G>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV100909528 COSV100909528,COSV64229271 COSV64229271 | 107 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000001.11:g.152664425G>A Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664425G>A Locations: - c.320G>A (NCI-TCGA:ENST00000368784) - p.G107E (NCI-TCGA:ENST00000368784) Source type: large scale study | |||||||
COSV64229083 | 107 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.17) Somatic: Yes Accession: NC_000001.11:g.152664424G>A Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664424G>A Locations: - c.319G>A (NCI-TCGA:ENST00000368784) - p.G107R (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: | |||||||
COSV100909528 COSV100909528,COSV64229271 COSV64229271 | 107 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.542) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.152664425G>T Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664425G>T Locations: - c.320G>T (NCI-TCGA:ENST00000368784) - p.G107V (NCI-TCGA:ENST00000368784) Source type: large scale study | |||||||
rs1225252187 | 108 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000001.11:g.152664427G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664427G>A Locations: - p.Gly108Ser (Ensembl:ENST00000368784) - c.322G>A (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs1648508109 | 109 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.152664430T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664430T>C Locations: - p.Cys109Arg (Ensembl:ENST00000368784) - c.325T>C (Ensembl:ENST00000368784) Source type: large scale study Cross-references: | |||||||
rs776043293 | 109 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.152664431G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664431G>A Locations: - p.Cys109Tyr (Ensembl:ENST00000368784) - c.326G>A (Ensembl:ENST00000368784) Source type: large scale study | |||||||
COSV64229316 | 110 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000001.11:g.152664434G>A Consequence type: missense Cytogenetic band: 1q21.3 Genomic location: NC_000001.11:g.152664434G>A Locations: - c.329G>A (NCI-TCGA:ENST00000368784) - p.C110Y (NCI-TCGA:ENST00000368784) Source type: large scale study Cross-references: |