Q9H832 · UBE2Z_HUMAN
- ProteinUbiquitin-conjugating enzyme E2 Z
- GeneUBE2Z
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids354 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1598069225 | 4 | S>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.48908514G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908514G>T Locations: - p.Ser4Ile (Ensembl:ENST00000360943) - c.11G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646002 | 4 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.48908515T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908515T>G Locations: - p.Ser4Arg (Ensembl:ENST00000360943) - c.12T>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1598069225 | 4 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000017.11:g.48908514G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908514G>C Locations: - p.Ser4Thr (Ensembl:ENST00000360943) - c.11G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs970782582 | 5 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000017.11:g.48908517C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908517C>A Locations: - p.Pro5Gln (Ensembl:ENST00000360943) - c.14C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646028 | 5 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000017.11:g.48908516C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908516C>T Locations: - p.Pro5Ser (Ensembl:ENST00000360943) - c.13C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646085 | 7 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000017.11:g.48908523A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908523A>G Locations: - p.Glu7Gly (Ensembl:ENST00000360943) - c.20A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646106 | 8 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000017.11:g.48908527G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908527G>C Locations: - p.Glu8Asp (Ensembl:ENST00000360943) - c.24G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646122 | 9 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000017.11:g.48908529C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908529C>T Locations: - p.Ala9Val (Ensembl:ENST00000360943) - c.26C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646143 | 10 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.48908532C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908532C>T Locations: - p.Ala10Val (Ensembl:ENST00000360943) - c.29C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs762169439 | 11 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000017.11:g.48908534A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908534A>G Locations: - p.Thr11Ala (Ensembl:ENST00000360943) - c.31A>G (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs1201502615 | 11 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000017.11:g.48908535C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908535C>T Locations: - p.Thr11Met (Ensembl:ENST00000360943) - c.32C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1201502615 | 11 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000017.11:g.48908535C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908535C>G Locations: - p.Thr11Arg (Ensembl:ENST00000360943) - c.32C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1230054134 | 12 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000017.11:g.48908538C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908538C>G Locations: - p.Ala12Gly (Ensembl:ENST00000360943) - c.35C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1203544974 | 12 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.85) Somatic: No Accession: NC_000017.11:g.48908537G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908537G>T Locations: - p.Ala12Ser (Ensembl:ENST00000360943) - c.34G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1203544974 | 12 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000017.11:g.48908537G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908537G>A Locations: - p.Ala12Thr (Ensembl:ENST00000360943) - c.34G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1230054134 | 12 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000017.11:g.48908538C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908538C>T Locations: - p.Ala12Val (Ensembl:ENST00000360943) - c.35C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646385 | 13 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000017.11:g.48908541G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908541G>C Locations: - p.Gly13Ala (Ensembl:ENST00000360943) - c.38G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1287246183 | 14 | A>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000017.11:g.48908544C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908544C>A Locations: - p.Ala14Asp (Ensembl:ENST00000360943) - c.41C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs978106248 | 14 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000017.11:g.48908543G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908543G>C Locations: - p.Ala14Pro (Ensembl:ENST00000360943) - c.40G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs978106248 | 14 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000017.11:g.48908543G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908543G>A Locations: - p.Ala14Thr (Ensembl:ENST00000360943) - c.40G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs923781012 | 15 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000017.11:g.48908547G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908547G>A Locations: - p.Gly15Glu (Ensembl:ENST00000360943) - c.44G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs998032788 | 16 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000017.11:g.48908550C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908550C>T Locations: - p.Ala16Val (Ensembl:ENST00000360943) - c.47C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1389726717 | 17 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000017.11:g.48908553C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908553C>T Locations: - p.Ala17Val (Ensembl:ENST00000360943) - c.50C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646615 | 19 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000017.11:g.48908558C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908558C>G Locations: - p.Pro19Ala (Ensembl:ENST00000360943) - c.55C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1460035962 | 19 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000017.11:g.48908559C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908559C>T Locations: - p.Pro19Leu (Ensembl:ENST00000360943) - c.56C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646615 | 19 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.7) Somatic: No Accession: NC_000017.11:g.48908558C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908558C>A Locations: - p.Pro19Thr (Ensembl:ENST00000360943) - c.55C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2143752838 | 21 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000017.11:g.48908565C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908565C>T Locations: - p.Ala21Val (Ensembl:ENST00000360943) - c.62C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs886928067 | 22 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000017.11:g.48908568G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908568G>A Locations: - p.Ser22Asn (Ensembl:ENST00000360943) - c.65G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs886928067 | 22 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000017.11:g.48908568G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908568G>C Locations: - p.Ser22Thr (Ensembl:ENST00000360943) - c.65G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646715 | 23 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000017.11:g.48908570A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908570A>G Locations: - p.Ser23Gly (Ensembl:ENST00000360943) - c.67A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1426139686 | 23 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_000017.11:g.48908571G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908571G>C Locations: - p.Ser23Thr (Ensembl:ENST00000360943) - c.68G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2143752853 | 25 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000017.11:g.48908576G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908576G>T Locations: - p.Ala25Ser (Ensembl:ENST00000360943) - c.73G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646763 | 25 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000017.11:g.48908577C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908577C>T Locations: - p.Ala25Val (Ensembl:ENST00000360943) - c.74C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1006082865 | 26 | G>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000017.11:g.48908579G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908579G>T Locations: - p.Gly26Cys (Ensembl:ENST00000360943) - c.76G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646802 | 26 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000017.11:g.48908580G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908580G>T Locations: - p.Gly26Val (Ensembl:ENST00000360943) - c.77G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1456494673 | 27 | V>G | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000017.11:g.48908583T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908583T>G Locations: - p.Val27Gly (Ensembl:ENST00000360943) - c.80T>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646906 | 28 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000017.11:g.48908586T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908586T>C Locations: - p.Val28Ala (Ensembl:ENST00000360943) - c.83T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040646906 | 28 | V>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000017.11:g.48908586T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908586T>A Locations: - p.Val28Asp (Ensembl:ENST00000360943) - c.83T>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1180511933 | 29 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000017.11:g.48908588G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908588G>A Locations: - p.Gly29Ser (Ensembl:ENST00000360943) - c.85G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2143752898 | 31 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000017.11:g.48908594A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908594A>T Locations: - p.Ser31Cys (Ensembl:ENST00000360943) - c.91A>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2143752905 | 31 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000017.11:g.48908595G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908595G>T Locations: - p.Ser31Ile (Ensembl:ENST00000360943) - c.92G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040647012 | 32 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000017.11:g.48908598G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908598G>A Locations: - p.Gly32Asp (Ensembl:ENST00000360943) - c.95G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1238877226 | 32 | G>S | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000017.11:g.48908597G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908597G>A Locations: - p.Gly32Ser (Ensembl:ENST00000360943) - c.94G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1453950358 | 34 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000017.11:g.48908604G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908604G>A Locations: - p.Gly34Asp (Ensembl:ENST00000360943) - c.101G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1454213061 | 34 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.95) Somatic: No Accession: NC_000017.11:g.48908603G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908603G>A Locations: - p.Gly34Ser (Ensembl:ENST00000360943) - c.100G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1017016281 | 35 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.56) Somatic: No Accession: NC_000017.11:g.48908606G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908606G>A Locations: - p.Gly35Ser (Ensembl:ENST00000360943) - c.103G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs969838726 | 36 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000017.11:g.48908609G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908609G>A Locations: - p.Gly36Arg (Ensembl:ENST00000360943) - c.106G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs969838726 | 36 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.48908609G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908609G>T Locations: - p.Gly36Trp (Ensembl:ENST00000360943) - c.106G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs963321336 | 37 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000017.11:g.48908612T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908612T>G Locations: - p.Phe37Val (Ensembl:ENST00000360943) - c.109T>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1345199465 | 38 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.48908615G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908615G>T Locations: - p.Gly38Trp (Ensembl:ENST00000360943) - c.112G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1455054422 | 39 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000017.11:g.48908618C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908618C>A Locations: - p.Pro39Thr (Ensembl:ENST00000360943) - c.115C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs980804823 | 41 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000017.11:g.48908626C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908626C>A Locations: - p.Phe41Leu (Ensembl:ENST00000360943) - c.123C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040647324 | 41 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000017.11:g.48908625T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908625T>C Locations: - p.Phe41Ser (Ensembl:ENST00000360943) - c.122T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040647372 | 42 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000017.11:g.48908628T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908628T>C Locations: - p.Leu42Pro (Ensembl:ENST00000360943) - c.125T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040647426 | 43 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000017.11:g.48908631C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908631C>G Locations: - p.Pro43Arg (Ensembl:ENST00000360943) - c.128C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1374356056 | 43 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000017.11:g.48908630C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908630C>A Locations: - p.Pro43Thr (Ensembl:ENST00000360943) - c.127C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1322560305 | 47 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000017.11:g.48908643C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908643C>T Locations: - p.Ala47Val (Ensembl:ENST00000360943) - c.140C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040647564 | 48 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000017.11:g.48908645G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908645G>A Locations: - p.Ala48Thr (Ensembl:ENST00000360943) - c.142G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1383764178 | 48 | A>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000017.11:g.48908646C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908646C>T Locations: - p.Ala48Val (Ensembl:ENST00000360943) - c.143C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2143753007 | 49 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: NC_000017.11:g.48908648G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908648G>T Locations: - p.Ala49Ser (Ensembl:ENST00000360943) - c.145G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040647606 | 49 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000017.11:g.48908649C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908649C>T Locations: - p.Ala49Val (Ensembl:ENST00000360943) - c.146C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2143753020 | 50 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000017.11:g.48908652C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908652C>G Locations: - p.Ala50Gly (Ensembl:ENST00000360943) - c.149C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs960967217 | 51 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000017.11:g.48908654G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908654G>C Locations: - p.Ala51Pro (Ensembl:ENST00000360943) - c.151G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs960967217 | 51 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000017.11:g.48908654G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908654G>T Locations: - p.Ala51Ser (Ensembl:ENST00000360943) - c.151G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs960967217 | 51 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000017.11:g.48908654G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908654G>A Locations: - p.Ala51Thr (Ensembl:ENST00000360943) - c.151G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs988374492 | 51 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000017.11:g.48908655C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908655C>T Locations: - p.Ala51Val (Ensembl:ENST00000360943) - c.152C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1168528381 | 52 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000017.11:g.48908658C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908658C>G Locations: - p.Ala52Gly (Ensembl:ENST00000360943) - c.155C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs914102438 | 55 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000017.11:g.48908667C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908667C>T Locations: - p.Ala55Val (Ensembl:ENST00000360943) - c.164C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2143753085 | 56 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000017.11:g.48908670G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908670G>A Locations: - p.Gly56Glu (Ensembl:ENST00000360943) - c.167G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs968202501 | 56 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000017.11:g.48908669G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908669G>A Locations: - p.Gly56Arg (Ensembl:ENST00000360943) - c.166G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1210254404 | 57 | G>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: NC_000017.11:g.48908673G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908673G>C Locations: - p.Gly57Ala (Ensembl:ENST00000360943) - c.170G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1210254404 | 57 | G>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000017.11:g.48908673G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908673G>A Locations: - p.Gly57Asp (Ensembl:ENST00000360943) - c.170G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1266226196 | 57 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000017.11:g.48908672G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908672G>A Locations: - p.Gly57Ser (Ensembl:ENST00000360943) - c.169G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs773417096 | 58 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000017.11:g.48908676C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908676C>T Locations: - p.Pro58Leu (Ensembl:ENST00000360943) - c.173C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs925731266 | 61 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000017.11:g.48908684G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908684G>A Locations: - p.Gly61Ser (Ensembl:ENST00000360943) - c.181G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1342715420 | 62 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000017.11:g.48908688T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908688T>C Locations: - p.Leu62Pro (Ensembl:ENST00000360943) - c.185T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040648080 | 64 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000017.11:g.48908693C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908693C>G Locations: - p.Pro64Ala (Ensembl:ENST00000360943) - c.190C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs942412947 | 64 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000017.11:g.48908694C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908694C>T Locations: - p.Pro64Leu (Ensembl:ENST00000360943) - c.191C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1330787817 | 66 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000017.11:g.48908700C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908700C>A Locations: - p.Pro66His (Ensembl:ENST00000360943) - c.197C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1368765887 | 67 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000017.11:g.48908703G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908703G>A Locations: - p.Gly67Glu (Ensembl:ENST00000360943) - c.200G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2143753182 | 68 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000017.11:g.48908706T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908706T>C Locations: - p.Leu68Pro (Ensembl:ENST00000360943) - c.203T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040648381 | 69 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000017.11:g.48908709C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908709C>G Locations: - p.Pro69Arg (Ensembl:ENST00000360943) - c.206C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1233395641 | 70 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000017.11:g.48908711C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908711C>G Locations: - p.Pro70Ala (Ensembl:ENST00000360943) - c.208C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040648475 | 70 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000017.11:g.48908712C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908712C>T Locations: - p.Pro70Leu (Ensembl:ENST00000360943) - c.209C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1233395641 | 70 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000017.11:g.48908711C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908711C>T Locations: - p.Pro70Ser (Ensembl:ENST00000360943) - c.208C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040648523 | 71 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.48908714T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908714T>C Locations: - p.Ser71Pro (Ensembl:ENST00000360943) - c.211T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1394817895 | 75 | H>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.48908727A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908727A>C Locations: - p.His75Pro (Ensembl:ENST00000360943) - c.224A>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1318766646 | 76 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.48908730G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908730G>A Locations: - p.Gly76Glu (Ensembl:ENST00000360943) - c.227G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1213708461 | 77 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.48908732G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908732G>A Locations: - p.Ala77Thr (Ensembl:ENST00000360943) - c.229G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1598069451 | 81 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48908744A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908744A>T Locations: - p.Ser81Cys (Ensembl:ENST00000360943) - c.241A>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1598069451 | 81 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.48908744A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908744A>G Locations: - p.Ser81Gly (Ensembl:ENST00000360943) - c.241A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1476737877 | 82 | H>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000017.11:g.48908747C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908747C>G Locations: - p.His82Asp (Ensembl:ENST00000360943) - c.244C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1469075560 | 82 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000017.11:g.48908748A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908748A>C Locations: - p.His82Pro (Ensembl:ENST00000360943) - c.245A>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1476737877 | 82 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000017.11:g.48908747C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908747C>T Locations: - p.His82Tyr (Ensembl:ENST00000360943) - c.244C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1216010869 | 83 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48908752G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908752G>T Locations: - p.Trp83Cys (Ensembl:ENST00000360943) - c.249G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1376763582 | 85 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.48908756C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908756C>T Locations: - p.Pro85Ser (Ensembl:ENST00000360943) - c.253C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1251462603 | 86 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.48908760C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908760C>T Locations: - p.Thr86Met (Ensembl:ENST00000360943) - c.257C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1178240686 | 87 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000017.11:g.48908763T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908763T>G Locations: - p.Leu87Arg (Ensembl:ENST00000360943) - c.260T>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1322262424 | 88 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.48908765A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908765A>T Locations: - p.Ser88Cys (Ensembl:ENST00000360943) - c.262A>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040649042 | 88 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.48908766G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908766G>A Locations: - p.Ser88Asn (Ensembl:ENST00000360943) - c.263G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1567776182 | 88 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.48908767C>G, NC_000017.11:g.48908767C>A Codon: AGC/AGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908767C>G, NC_000017.11:g.48908767C>A Locations: - p.Ser88Arg (Ensembl:ENST00000360943) - c.264C>G (Ensembl:ENST00000360943) - c.264C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040649083 | 89 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48908769C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908769C>G Locations: - p.Ser89Cys (Ensembl:ENST00000360943) - c.266C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040649083 | 89 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.48908769C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908769C>T Locations: - p.Ser89Phe (Ensembl:ENST00000360943) - c.266C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1408105973 | 90 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.361) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.48908771G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908771G>A Locations: - p.Asp90Asn (Ensembl:ENST00000360943) - c.268G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1420404342 | 95 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.727) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.48908787G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908787G>A Locations: - p.Arg95His (Ensembl:ENST00000360943) - c.284G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1046955932 | 96 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.48908790C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908790C>T Locations: - p.Thr96Ile (Ensembl:ENST00000360943) - c.287C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1461627322 | 97 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000017.11:g.48908792G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908792G>A Locations: - p.Ala97Thr (Ensembl:ENST00000360943) - c.289G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1391924424 | 99 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.48908800G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908800G>T Locations: - p.Gln99His (Ensembl:ENST00000360943) - c.297G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040649354 | 100 | C>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.48908802G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908802G>C Locations: - p.Cys100Ser (Ensembl:ENST00000360943) - c.299G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040649354 | 100 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48908802G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908802G>A Locations: - p.Cys100Tyr (Ensembl:ENST00000360943) - c.299G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1298628733 | 103 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48908811G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908811G>A Locations: - p.Arg103Gln (Ensembl:ENST00000360943) - c.308G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1222205583 | 104 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.48908813A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908813A>C Locations: - p.Ile104Leu (Ensembl:ENST00000360943) - c.310A>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1306373128 | 104 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48908815C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908815C>G Locations: - p.Ile104Met (Ensembl:ENST00000360943) - c.312C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1054129537 | 105 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48908818G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48908818G>T Locations: - p.Lys105Asn (Ensembl:ENST00000360943) - c.315G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040671852 | 109 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.48910815A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910815A>T Locations: - p.Met109Leu (Ensembl:ENST00000360943) - c.325A>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1291061114 | 111 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.48910821A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910821A>G Locations: - p.Ile111Val (Ensembl:ENST00000360943) - c.331A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040671906 | 112 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48910824T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910824T>C Locations: - p.Tyr112His (Ensembl:ENST00000360943) - c.334T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040671924 | 114 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000017.11:g.48910832G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910832G>T Locations: - p.Glu114Asp (Ensembl:ENST00000360943) - c.342G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1472254640 | 116 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48910836C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910836C>T Locations: - p.Pro116Ser (Ensembl:ENST00000360943) - c.346C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1468126272 | 119 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000017.11:g.48910847G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910847G>A Locations: - p.Met119Ile (Ensembl:ENST00000360943) - c.357G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 121 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.48910852T>C Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910852T>C Locations: - c.362T>C (NCI-TCGA:ENST00000360943) - p.V121A (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs760942331 | 121 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.688) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000017.11:g.48910851G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910851G>A Locations: - p.Val121Ile (Ensembl:ENST00000360943) - c.361G>A (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs1375971691 | 122 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.48910854G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910854G>C Locations: - p.Val122Leu (Ensembl:ENST00000360943) - c.364G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 122 | V>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000017.11:g.48910846_48910847insGTTC Consequence type: frameshift Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910846_48910847insGTTC Locations: - c.360_363dup (NCI-TCGA:ENST00000360943) - p.V122Rfs*4 (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1293930587 | 123 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.48910858C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910858C>T Locations: - p.Pro123Leu (Ensembl:ENST00000360943) - c.368C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV62876271 | 125 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000017.11:g.48910864C>T Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910864C>T Locations: - c.374C>T (NCI-TCGA:ENST00000360943) - p.T125I (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1311137926 | 125 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.48910863A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910863A>C Locations: - p.Thr125Pro (Ensembl:ENST00000360943) - c.373A>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs987669063 | 127 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000017.11:g.48910869G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910869G>A Locations: - p.Asp127Asn (Ensembl:ENST00000360943) - c.379G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV100711531 | 128 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated (0.58) Somatic: Yes Accession: NC_000017.11:g.48910872A>G Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48910872A>G Locations: - c.382A>G (NCI-TCGA:ENST00000360943) - p.M128V (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1211242296 | 132 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.48912837C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912837C>T Locations: - p.His132Tyr (Ensembl:ENST00000360943) - c.394C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV62875696 | 134 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.48912845G>C Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912845G>C Locations: - c.402G>C (NCI-TCGA:ENST00000360943) - p.L134F (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs778146011 | 140 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.48912863C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912863C>G Locations: - p.Asp140Glu (Ensembl:ENST00000360943) - c.420C>G (Ensembl:ENST00000360943) Source type: large scale study | |||||||
COSV62875306 | 140 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.48912861G>A Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912861G>A Locations: - c.418G>A (NCI-TCGA:ENST00000360943) - p.D140N (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1598071927 | 141 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912864A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912864A>C Locations: - p.Thr141Pro (Ensembl:ENST00000360943) - c.421A>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1277904036 | 141 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912865C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912865C>G Locations: - p.Thr141Ser (Ensembl:ENST00000360943) - c.422C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040690319 | 143 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912870T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912870T>C Locations: - p.Tyr143His (Ensembl:ENST00000360943) - c.427T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV100711463 rs1598071932 | 146 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.48912880G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912880G>T Locations: - p.G146V (NCI-TCGA:ENST00000360943) - p.Gly146Val (Ensembl:ENST00000360943) - c.437G>T (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs2040690372 | 147 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912882T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912882T>G Locations: - p.Phe147Val (Ensembl:ENST00000360943) - c.439T>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs747489361 | 148 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912885T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912885T>C Locations: - p.Phe148Leu (Ensembl:ENST00000360943) - c.442T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1444922389 | 151 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.48912894G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912894G>C Locations: - p.Val151Leu (Ensembl:ENST00000360943) - c.451G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1005849141 | 153 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.48912901G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912901G>A Locations: - p.Arg153Gln (Ensembl:ENST00000360943) - c.458G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV62875577 rs1207937641 | 153 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: deleterious (0.01) - PolyPhen: benign (0.186) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003981 (gnomAD) Accession: NC_000017.11:g.48912900C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912900C>T Locations: - p.R153W (NCI-TCGA:ENST00000360943) - p.Arg153Trp (Ensembl:ENST00000360943) - c.457C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs777091743 | 155 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912907C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912907C>T Locations: - p.Pro155Leu (Ensembl:ENST00000360943) - c.464C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs777091743 | 155 | P>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912907C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912907C>A Locations: - p.Pro155Gln (Ensembl:ENST00000360943) - c.464C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs777091743 | 155 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912907C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912907C>G Locations: - p.Pro155Arg (Ensembl:ENST00000360943) - c.464C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2143760152 | 157 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912912G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912912G>T Locations: - p.Asp157Tyr (Ensembl:ENST00000360943) - c.469G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs375589561 | 164 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912934G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912934G>A Locations: - p.Arg164Gln (Ensembl:ENST00000360943) - c.491G>A (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs1401631042 | 166 | K>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.48912939A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912939A>T Locations: - p.Lys166Ter (Ensembl:ENST00000360943) - c.496A>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040690859 | 170 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912951A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912951A>G Locations: - p.Thr170Ala (Ensembl:ENST00000360943) - c.508A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040690877 | 170 | T>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912952C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912952C>T Locations: - p.Thr170Met (Ensembl:ENST00000360943) - c.509C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040690941 | 172 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.48912957A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912957A>G Locations: - p.Asn172Asp (Ensembl:ENST00000360943) - c.514A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV100711437 | 174 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.593) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000017.11:g.48912964C>T Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912964C>T Locations: - c.521C>T (NCI-TCGA:ENST00000360943) - p.T174I (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040690971 | 177 | F>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912972T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912972T>A Locations: - p.Phe177Ile (Ensembl:ENST00000360943) - c.529T>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040691002 | 177 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912973T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912973T>C Locations: - p.Phe177Ser (Ensembl:ENST00000360943) - c.530T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV62876501 | 180 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.48912981A>G Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912981A>G Locations: - c.538A>G (NCI-TCGA:ENST00000360943) - p.N180D (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1439374441 | 181 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000017.11:g.48912986C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912986C>A Locations: - p.Phe181Leu (Ensembl:ENST00000360943) - c.543C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs767331123 | 183 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912990C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912990C>T Locations: - p.Arg183Cys (Ensembl:ENST00000360943) - c.547C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs144649420 | 183 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48912991G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912991G>A Locations: - p.Arg183His (Ensembl:ENST00000360943) - c.548G>A (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs144649420 | 183 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.45) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48912991G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912991G>T Locations: - p.Arg183Leu (Ensembl:ENST00000360943) - c.548G>T (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs755820392 | 184 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.48912994A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48912994A>G Locations: - p.Asn184Ser (Ensembl:ENST00000360943) - c.551A>G (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs2040691205 | 186 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.48913000A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48913000A>G Locations: - p.Lys186Arg (Ensembl:ENST00000360943) - c.557A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 188 | C>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.48913007C>A Consequence type: stop gained Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48913007C>A Locations: - c.564C>A (NCI-TCGA:ENST00000360943) - p.C188* (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 190 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.48913012G>C Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48913012G>C Locations: - c.569G>C (NCI-TCGA:ENST00000360943) - p.S190T (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2040691255 | 191 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.48913015T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48913015T>C Locations: - p.Ile191Thr (Ensembl:ENST00000360943) - c.572T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1280771034 | 191 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.48913014A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48913014A>G Locations: - p.Ile191Val (Ensembl:ENST00000360943) - c.571A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040691314 | 192 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48913017C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48913017C>G Locations: - p.Leu192Val (Ensembl:ENST00000360943) - c.574C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 193 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48913021G>A Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48913021G>A Locations: - c.578G>A (NCI-TCGA:ENST00000360943) - p.G193D (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs773057789 | 194 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48916078C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916078C>T Locations: - p.Thr194Ile (Ensembl:ENST00000360943) - c.581C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1272601624 | 199 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48916092G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916092G>C Locations: - p.Ala199Pro (Ensembl:ENST00000360943) - c.595G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1272601624 | 199 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000017.11:g.48916092G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916092G>T Locations: - p.Ala199Ser (Ensembl:ENST00000360943) - c.595G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1272601624 | 199 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48916092G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916092G>A Locations: - p.Ala199Thr (Ensembl:ENST00000360943) - c.595G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1482800843 | 201 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.48916099G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916099G>C Locations: - p.Ser201Thr (Ensembl:ENST00000360943) - c.602G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 216 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48916144T>C Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916144T>C Locations: - c.647T>C (NCI-TCGA:ENST00000360943) - p.L216P (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs766137988 | 216 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.48916143C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916143C>G Locations: - p.Leu216Val (Ensembl:ENST00000360943) - c.646C>G (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs2040717636 | 218 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48916149A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916149A>G Locations: - p.Thr218Ala (Ensembl:ENST00000360943) - c.652A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV100711527 | 219 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000017.11:g.48916154G>C Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916154G>C Locations: - c.657G>C (NCI-TCGA:ENST00000360943) - p.E219D (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1450018780 | 220 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000017.11:g.48916157C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916157C>A Locations: - p.Asn220Lys (Ensembl:ENST00000360943) - c.660C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1262155132 | 224 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48916168A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916168A>G Locations: - p.Asn224Ser (Ensembl:ENST00000360943) - c.671A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040717746 | 227 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48916176G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916176G>A Locations: - p.Gly227Ser (Ensembl:ENST00000360943) - c.679G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs992353096 | 228 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48916181T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916181T>G Locations: - p.Phe228Leu (Ensembl:ENST00000360943) - c.684T>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1166609976 | 230 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.48916186A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48916186A>G Locations: - p.Gln230Arg (Ensembl:ENST00000360943) - c.689A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1383780498 | 233 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.48921166C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921166C>A Locations: - p.His233Asn (Ensembl:ENST00000360943) - c.697C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 233 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000017.11:g.48921166C>T Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921166C>T Locations: - c.697C>T (NCI-TCGA:ENST00000360943) - p.H233Y (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1318284169 | 238 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.48921182A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921182A>G Locations: - p.Lys238Arg (Ensembl:ENST00000360943) - c.713A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 239 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.48921186C>A Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921186C>A Locations: - c.717C>A (NCI-TCGA:ENST00000360943) - p.N239K (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100711580 COSV100711580,COSV62875225 COSV62875225 | 239 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.48921185A>G Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921185A>G Locations: - c.716A>G (NCI-TCGA:ENST00000360943) - p.N239S (NCI-TCGA:ENST00000360943) Source type: large scale study | |||||||
rs762560070 | 240 | Y>C | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48921188A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921188A>G Locations: - p.Tyr240Cys (Ensembl:ENST00000360943) - c.719A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1305756747 | 244 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.48921199A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921199A>G Locations: - p.Ile244Val (Ensembl:ENST00000360943) - c.730A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs763642687 | 245 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000017.11:g.48921203G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921203G>A Locations: - p.Arg245Gln (Ensembl:ENST00000360943) - c.734G>A (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs1232589217 | 245 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.506) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.00001205 (gnomAD) Accession: NC_000017.11:g.48921202C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921202C>T Locations: - p.R245W (NCI-TCGA:ENST00000360943) - p.Arg245Trp (Ensembl:ENST00000360943) - c.733C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs750991151 | 246 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48921205C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921205C>T Locations: - p.His246Tyr (Ensembl:ENST00000360943) - c.736C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1469331590 | 247 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48921208G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921208G>A Locations: - p.Glu247Lys (Ensembl:ENST00000360943) - c.739G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs780322678 | 248 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.48921211A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921211A>G Locations: - p.Thr248Ala (Ensembl:ENST00000360943) - c.742A>G (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs754209016 | 249 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.48921214A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921214A>G Locations: - p.Ile249Val (Ensembl:ENST00000360943) - c.745A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1387580384 | 257 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48921239T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921239T>C Locations: - p.Met257Thr (Ensembl:ENST00000360943) - c.770T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 260 | K>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.48921247A>T Consequence type: stop gained Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921247A>T Locations: - c.778A>T (NCI-TCGA:ENST00000360943) - p.K260* (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 260 | K>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48921248A>T Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921248A>T Locations: - c.779A>T (NCI-TCGA:ENST00000360943) - p.K260M (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1327896925 | 261 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.48921251G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921251G>T Locations: - p.Cys261Phe (Ensembl:ENST00000360943) - c.782G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1327896925 | 261 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.698) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000017.11:g.48921251G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921251G>A Locations: - p.Cys261Tyr (Ensembl:ENST00000360943) - c.782G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs148048743 | 262 | P>H | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.48921254C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921254C>A Locations: - p.Pro262His (Ensembl:ENST00000360943) - c.785C>A (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs2040756492 | 262 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.48921253C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921253C>A Locations: - p.Pro262Thr (Ensembl:ENST00000360943) - c.784C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1046227572 | 263 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.48921257G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921257G>T Locations: - p.Cys263Phe (Ensembl:ENST00000360943) - c.788G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1460213314 | 265 | E>K | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.48921262G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921262G>A Locations: - p.Glu265Lys (Ensembl:ENST00000360943) - c.793G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040756589 | 266 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000017.11:g.48921265C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921265C>T Locations: - p.Pro266Ser (Ensembl:ENST00000360943) - c.796C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 267 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.48921268C>A Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921268C>A Locations: - c.799C>A (NCI-TCGA:ENST00000360943) - p.L267I (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1567779728 | 268 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.48921271C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921271C>T Locations: - p.Arg268Ter (Ensembl:ENST00000360943) - c.802C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1307778263 | 268 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.48921272G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48921272G>A Locations: - p.Arg268Gln (Ensembl:ENST00000360943) - c.803G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1423197916 | 269 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.48922849G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922849G>A Locations: - p.Gly269Glu (Ensembl:ENST00000360943) - c.806G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1372296580 | 270 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.836) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.48922852T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922852T>C Locations: - p.Val270Ala (Ensembl:ENST00000360943) - c.809T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1171116797 | 270 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.48922851G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922851G>A Locations: - p.Val270Met (Ensembl:ENST00000360943) - c.808G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs769736762 | 272 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.48922857G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922857G>A Locations: - p.Glu272Lys (Ensembl:ENST00000360943) - c.814G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs775387128 | 273 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.48922861A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922861A>G Locations: - p.Lys273Arg (Ensembl:ENST00000360943) - c.818A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV100711559 COSV100711559,COSV62875403 COSV62875403 | 274 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48922864C>T Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922864C>T Locations: - c.821C>T (NCI-TCGA:ENST00000360943) - p.S274F (NCI-TCGA:ENST00000360943) Source type: large scale study | |||||||
rs758429203 | 279 | Y>* | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.48922879dup Codon: TAC/TAAC Consequence type: stop gained Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922879dup Locations: - p.Tyr279Ter (Ensembl:ENST00000360943) - c.836dup (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs774063783 | 280 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious (0.05) - PolyPhen: benign (0.06) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00001197 (gnomAD) Accession: NC_000017.11:g.48922881G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922881G>A Locations: - p.D280N (NCI-TCGA:ENST00000360943) - p.Asp280Asn (Ensembl:ENST00000360943) - c.838G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1058018 | 282 | Y>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.48922889C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922889C>A Locations: - p.Tyr282Ter (Ensembl:ENST00000360943) - c.846C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs868672680 | 282 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48922887T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922887T>C Locations: - p.Tyr282His (Ensembl:ENST00000360943) - c.844T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs183767062 | 283 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.48922890G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922890G>A Locations: - p.Glu283Lys (Ensembl:ENST00000360943) - c.847G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1177258290 | 284 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000017.11:g.48922893G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922893G>T Locations: - p.Val284Leu (Ensembl:ENST00000360943) - c.850G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1273210272 | 285 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48922897C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922897C>A Locations: - p.Ala285Asp (Ensembl:ENST00000360943) - c.854C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1273210272 | 285 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.48922897C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922897C>T Locations: - p.Ala285Val (Ensembl:ENST00000360943) - c.854C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040770555 | 289 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48922908C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922908C>T Locations: - p.Arg289Cys (Ensembl:ENST00000360943) - c.865C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV104417378 rs759919336 | 289 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: tolerated (0.1) - PolyPhen: benign (0.297) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.00001199 (gnomAD) Accession: NC_000017.11:g.48922909G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922909G>A Locations: - p.R289H (NCI-TCGA:ENST00000360943) - p.Arg289His (Ensembl:ENST00000360943) - c.866G>A (Ensembl:ENST00000360943) Source type: large scale study | |||||||
rs1186885485 | 294 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.655) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48922924G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922924G>T Locations: - p.Gly294Val (Ensembl:ENST00000360943) - c.881G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs949119771 | 295 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.48922926C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922926C>G Locations: - p.Gln295Glu (Ensembl:ENST00000360943) - c.883C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs905342757 | 297 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48922934G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922934G>T Locations: - p.Met297Ile (Ensembl:ENST00000360943) - c.891G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1395728424 | 297 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48922932A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922932A>G Locations: - p.Met297Val (Ensembl:ENST00000360943) - c.889A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1416407190 | 298 | Q>K | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.48922935C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922935C>A Locations: - p.Gln298Lys (Ensembl:ENST00000360943) - c.892C>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040770774 | 298 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48922936A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48922936A>C Locations: - p.Gln298Pro (Ensembl:ENST00000360943) - c.893A>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs775992931 | 300 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48926968C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48926968C>G Locations: - p.Pro300Arg (Ensembl:ENST00000360943) - c.899C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 303 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.48926976G>A Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48926976G>A Locations: - c.907G>A (NCI-TCGA:ENST00000360943) - p.E303K (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2040802978 | 305 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48926982C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48926982C>T Locations: - p.Arg305Trp (Ensembl:ENST00000360943) - c.913C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs774552235 | 309 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.48926994G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48926994G>A Locations: - p.Asp309Asn (Ensembl:ENST00000360943) - c.925G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV99287853 | 310 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.48926998A>G Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48926998A>G Locations: - c.929A>G (NCI-TCGA:ENST00000360943) - p.Y310C (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1284508884 | 311 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.739) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.48927002G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927002G>C Locations: - p.Gln311His (Ensembl:ENST00000360943) - c.933G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1207903006 | 315 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000017.11:g.48927013T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927013T>C Locations: - p.Met315Thr (Ensembl:ENST00000360943) - c.944T>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV99287855 | 316 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.48927015C>T Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927015C>T Locations: - c.946C>T (NCI-TCGA:ENST00000360943) - p.R316C (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV99287886 | 316 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.48927016G>A Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927016G>A Locations: - c.947G>A (NCI-TCGA:ENST00000360943) - p.R316H (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV99287744 rs1439792291 | 318 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.28) - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.48927022G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927022G>T Locations: - p.G318V (NCI-TCGA:ENST00000360943) - p.Gly318Val (Ensembl:ENST00000360943) - c.953G>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 320 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.48927028T>C Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927028T>C Locations: - c.959T>C (NCI-TCGA:ENST00000360943) - p.I320T (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1207943914 | 321 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.58) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48927030C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927030C>T Locations: - p.Arg321Cys (Ensembl:ENST00000360943) - c.961C>T (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1207943914 | 321 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.48927030C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927030C>G Locations: - p.Arg321Gly (Ensembl:ENST00000360943) - c.961C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2040803302 | 321 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) - PolyPhen: benign (0.001) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000017.11:g.48927031G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927031G>A Locations: - p.R321H (NCI-TCGA:ENST00000360943) - p.Arg321His (Ensembl:ENST00000360943) - c.962G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1483450929 | 322 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.48927035G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927035G>C Locations: - p.Gln322His (Ensembl:ENST00000360943) - c.966G>C (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1289271666 | 322 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000017.11:g.48927034A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927034A>G Locations: - p.Gln322Arg (Ensembl:ENST00000360943) - c.965A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1207378311 | 324 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.528) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.48927039G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927039G>A Locations: - p.Val324Met (Ensembl:ENST00000360943) - c.970G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1058017 | 325 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000017.11:g.48927043T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927043T>G Locations: - p.Leu325Arg (Ensembl:ENST00000360943) - c.974T>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV99287676 | 329 | H>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000017.11:g.48927055A>T Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927055A>T Locations: - c.986A>T (NCI-TCGA:ENST00000360943) - p.H329L (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV99287676 | 329 | H>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000017.11:g.48927055A>C Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927055A>C Locations: - c.986A>C (NCI-TCGA:ENST00000360943) - p.H329P (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1472355323 | 329 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000017.11:g.48927055A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927055A>G Locations: - p.His329Arg (Ensembl:ENST00000360943) - c.986A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV51726973 | 330 | N>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.215) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000017.11:g.48927057A>C Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927057A>C Locations: - c.988A>C (NCI-TCGA:ENST00000360943) - p.N330H (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV51725984 | 331 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000017.11:g.48927062G>T Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927062G>T Locations: - c.993G>T (NCI-TCGA:ENST00000360943) - p.E331D (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
TCGA novel | 331 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.575) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.48927060G>C Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927060G>C Locations: - c.991G>C (NCI-TCGA:ENST00000360943) - p.E331Q (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs762145598 | 335 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000017.11:g.48927074G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927074G>A Locations: - p.Met335Ile (Ensembl:ENST00000360943) - c.1005G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1189100746 | 335 | M>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000017.11:g.48927073T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927073T>G Locations: - p.Met335Arg (Ensembl:ENST00000360943) - c.1004T>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs1472110494 | 338 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.48927082A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927082A>G Locations: - p.Asp338Gly (Ensembl:ENST00000360943) - c.1013A>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV51726646 | 340 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.48927088G>T Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927088G>T Locations: - c.1019G>T (NCI-TCGA:ENST00000360943) - p.S340I (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
COSV99287925 | 347 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000017.11:g.48927108G>T Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927108G>T Locations: - c.1039G>T (NCI-TCGA:ENST00000360943) - p.D347Y (NCI-TCGA:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs766516814 | 348 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000017.11:g.48927111C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927111C>G Locations: - p.Leu348Val (Ensembl:ENST00000360943) - c.1042C>G (Ensembl:ENST00000360943) Source type: large scale study Cross-references: | |||||||
rs2040803559 | 350 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.48927117G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q21.32 Genomic location: NC_000017.11:g.48927117G>A Locations: - p.Gly350Arg (Ensembl:ENST00000360943) - c.1048G>A (Ensembl:ENST00000360943) Source type: large scale study Cross-references: |