P09919 · CSF3_HUMAN
- ProteinGranulocyte colony-stimulating factor
- GeneCSF3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids207 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1246753147 | 3 | G>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000017.11:g.40015481G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015481G>A Locations: - p.Gly3Arg (Ensembl:ENST00000225474) - c.7G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1278111178 | 3 | G>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000017.11:g.40015482G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015482G>T Locations: - p.Gly3Val (Ensembl:ENST00000225474) - c.8G>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1342941531 | 5 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000017.11:g.40015487G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015487G>T Locations: - p.Ala5Ser (Ensembl:ENST00000225474) - c.13G>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs2144834091 | 6 | T>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000017.11:g.40015490A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015490A>G Locations: - p.Thr6Ala (Ensembl:ENST00000225474) - c.16A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981315744 | 6 | T>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.40015491C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015491C>T Locations: - p.Thr6Ile (Ensembl:ENST00000225474) - c.17C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1487619917 | 7 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.40015493C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015493C>G Locations: - p.Gln7Glu (Ensembl:ENST00000225474) - c.19C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1435158668 | 7 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000017.11:g.40015494A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015494A>G Locations: - p.Gln7Arg (Ensembl:ENST00000225474) - c.20A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1347714392 | 8 | S>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000017.11:g.40015496A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015496A>G Locations: - p.Ser8Gly (Ensembl:ENST00000225474) - c.22A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981316678 | 8 | S>N | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000017.11:g.40015497G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015497G>A Locations: - p.Ser8Asn (Ensembl:ENST00000225474) - c.23G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981316905 | 9 | P>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40015500C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015500C>T Locations: - p.Pro9Leu (Ensembl:ENST00000225474) - c.26C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1037288076 | 10 | M>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000017.11:g.40015502A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015502A>G Locations: - p.Met10Val (Ensembl:ENST00000225474) - c.28A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs756474991 | 13 | M>I | ExAC TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000017.11:g.40015513G>A, NC_000017.11:g.40015513G>C Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015513G>A, NC_000017.11:g.40015513G>C Locations: - p.Met13Ile (Ensembl:ENST00000225474) - c.39G>A (Ensembl:ENST00000225474) - c.39G>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1251521046 | 13 | M>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000017.11:g.40015511A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015511A>T Locations: - p.Met13Leu (Ensembl:ENST00000225474) - c.37A>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981334765 | 18 | L>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.40015702C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015702C>G Locations: - p.Leu18Val (Ensembl:ENST00000225474) - c.52C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs749644234 | 21 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.40015713C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015713C>G Locations: - p.His21Gln (Ensembl:ENST00000225474) - c.63C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56640255 rs755462486 | 22 | S>G | Variant of uncertain significance (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000017.11:g.40015714A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015714A>G Locations: - p.Ser22Gly (Ensembl:ENST00000225474) - c.64A>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1981335618 | 23 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40015718C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015718C>A Locations: - p.Ala23Glu (Ensembl:ENST00000225474) - c.68C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs141490008 | 24 | L>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.40015720C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015720C>T Locations: - p.Leu24Phe (Ensembl:ENST00000225474) - c.70C>T (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs866124767 | 25 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.40015724G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015724G>A Locations: - p.Trp25Ter (Ensembl:ENST00000225474) - c.74G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1360057216 | 26 | T>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: NC_000017.11:g.40015726A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015726A>G Locations: - p.Thr26Ala (Ensembl:ENST00000225474) - c.76A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1285370229 | 27 | V>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.40015730T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015730T>C Locations: - p.Val27Ala (Ensembl:ENST00000225474) - c.80T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1398240015 | 27 | V>M | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.40015729G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015729G>A Locations: - p.Val27Met (Ensembl:ENST00000225474) - c.79G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs747594943 | 28 | Q>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.40015733A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015733A>C Locations: - p.Gln28Pro (Ensembl:ENST00000225474) - c.83A>C (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs747594943 | 28 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.41) Somatic: No Accession: NC_000017.11:g.40015733A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015733A>G Locations: - p.Gln28Arg (Ensembl:ENST00000225474) - c.83A>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1981338128 | 30 | A>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40015738G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015738G>A Locations: - p.Ala30Thr (Ensembl:ENST00000225474) - c.88G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1310346527 | 30 | A>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40015739C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015739C>T Locations: - p.Ala30Val (Ensembl:ENST00000225474) - c.89C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1598322169 | 31 | T>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40015741A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015741A>C Locations: - p.Thr31Pro (Ensembl:ENST00000225474) - c.91A>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs772911210 | 32 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40015745C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015745C>A Locations: - p.Pro32His (Ensembl:ENST00000225474) - c.95C>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs772911210 | 32 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40015745C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015745C>G Locations: - p.Pro32Arg (Ensembl:ENST00000225474) - c.95C>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1258323759 | 32 | P>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40015744C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015744C>T Locations: - p.Pro32Ser (Ensembl:ENST00000225474) - c.94C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs746634544 | 33 | L>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40015747C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015747C>A Locations: - p.Leu33Met (Ensembl:ENST00000225474) - c.97C>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
TCGA novel rs1981339878 | 33 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.06) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40015748T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015748T>C Locations: - p.L33P (NCI-TCGA:ENST00000225474) - p.Leu33Pro (Ensembl:ENST00000225474) - c.98T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1270541943 | 34 | G>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: NC_000017.11:g.40015751G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015751G>C Locations: - p.Gly34Ala (Ensembl:ENST00000225474) - c.101G>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs962946209 | 37 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40015759A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015759A>T Locations: - p.Ser37Cys (Ensembl:ENST00000225474) - c.109A>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
TCGA novel | 37 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40015760G>T Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015760G>T Locations: - c.110G>T (NCI-TCGA:ENST00000225474) - p.S37I (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1310508252 | 38 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000017.11:g.40015762T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015762T>C Locations: - p.Ser38Pro (Ensembl:ENST00000225474) - c.112T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56641031 rs543073657 | 39 | L>V | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000017.11:g.40015765C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015765C>G Locations: - p.Leu39Val (Ensembl:ENST00000225474) - c.115C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981341115 | 40 | P>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40015769C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015769C>T Locations: - p.Pro40Leu (Ensembl:ENST00000225474) - c.119C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1380244544 | 40 | P>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.40015768C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015768C>T Locations: - p.Pro40Ser (Ensembl:ENST00000225474) - c.118C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs759275428 | 42 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000017.11:g.40015774A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015774A>G Locations: - p.Ser42Gly (Ensembl:ENST00000225474) - c.124A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981341541 | 43 | F>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40015777T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015777T>C Locations: - p.Phe43Leu (Ensembl:ENST00000225474) - c.127T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981342467 | 48 | L>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.40015793T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015793T>C Locations: - p.Leu48Ser (Ensembl:ENST00000225474) - c.143T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs767572172 | 49 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40015796A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015796A>G Locations: - p.Glu49Gly (Ensembl:ENST00000225474) - c.146A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs762945096 | 49 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40015795G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015795G>A Locations: - p.Glu49Lys (Ensembl:ENST00000225474) - c.145G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs760922799 | 51 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.40015802T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015802T>C Locations: - p.Val51Ala (Ensembl:ENST00000225474) - c.152T>C (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs750551936 | 51 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40015801G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015801G>C Locations: - p.Val51Leu (Ensembl:ENST00000225474) - c.151G>C (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1981343615 | 52 | R>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40015805G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015805G>A Locations: - p.Arg52Lys (Ensembl:ENST00000225474) - c.155G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1352934824 | 54 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40015812C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015812C>G Locations: - p.Ile54Met (Ensembl:ENST00000225474) - c.162C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1307558595 | 54 | I>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.40015810A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015810A>G Locations: - p.Ile54Val (Ensembl:ENST00000225474) - c.160A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs754170148 | 56 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.40015816G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015816G>A Locations: - p.Gly56Ser (Ensembl:ENST00000225474) - c.166G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1230540965 | 57 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.40015821T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015821T>A Locations: - p.Asp57Glu (Ensembl:ENST00000225474) - c.171T>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs548495573 | 57 | D>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.40015820A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015820A>G Locations: - p.Asp57Gly (Ensembl:ENST00000225474) - c.170A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56640214 rs139072004 | 57 | D>H | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.40015819G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015819G>C Locations: - p.Asp57His (Ensembl:ENST00000225474) - c.169G>C (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs139072004 | 57 | D>N | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40015819G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015819G>A Locations: - p.Asp57Asn (Ensembl:ENST00000225474) - c.169G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1481792718 | 59 | A>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000017.11:g.40015826C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015826C>A Locations: - p.Ala59Glu (Ensembl:ENST00000225474) - c.176C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs368530987 | 59 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.36) - SIFT: tolerated (0.29) Somatic: No Population frequencies: - MAF: 0.00001622 (gnomAD) Accession: NC_000017.11:g.40015825G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015825G>A Locations: - p.A59T (NCI-TCGA:ENST00000225474) - p.Ala59Thr (Ensembl:ENST00000225474) - c.175G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs780723122 | 60 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.71) Somatic: No Accession: NC_000017.11:g.40015829C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015829C>A Locations: - p.Ala60Glu (Ensembl:ENST00000225474) - c.179C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs770569372 | 60 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.40015828G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015828G>A Locations: - p.Ala60Thr (Ensembl:ENST00000225474) - c.178G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56640635 rs780723122 | 60 | A>V | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: Yes Accession: NC_000017.11:g.40015829C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015829C>T Locations: - p.Ala60Val (Ensembl:ENST00000225474) - c.179C>T (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs775326370 | 61 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40015831C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015831C>T Locations: - p.Leu61Phe (Ensembl:ENST00000225474) - c.181C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs762858610 | 63 | E>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.40015837G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015837G>T Locations: - p.Glu63Ter (Ensembl:ENST00000225474) - c.187G>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981347808 | 64 | K>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.71) Somatic: No Accession: NC_000017.11:g.40015841A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015841A>G Locations: - p.Lys64Arg (Ensembl:ENST00000225474) - c.191A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981348271 | 68 | E>K | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000017.11:g.40015852G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40015852G>A Locations: - p.Glu68Lys (Ensembl:ENST00000225474) - c.202G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
TCGA novel | 70 | A>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.40016236G>C Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016236G>C Locations: - c.208G>C (NCI-TCGA:ENST00000225474) - p.A70P (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1981376744 | 73 | K>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40016245A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016245A>G Locations: - p.Lys73Glu (Ensembl:ENST00000225474) - c.217A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs2144836072 | 73 | K>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016246A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016246A>C Locations: - p.Lys73Thr (Ensembl:ENST00000225474) - c.218A>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1396593257 | 74 | L>M | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40016248C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016248C>A Locations: - p.Leu74Met (Ensembl:ENST00000225474) - c.220C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1415672758 | 75 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016251T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016251T>A Locations: - p.Cys75Ser (Ensembl:ENST00000225474) - c.223T>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1178367331 | 75 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016252G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016252G>A Locations: - p.Cys75Tyr (Ensembl:ENST00000225474) - c.224G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1598322658 | 76 | H>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40016255A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016255A>C Locations: - p.His76Pro (Ensembl:ENST00000225474) - c.227A>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1413890446 | 76 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.04) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.00001124 (gnomAD) Accession: NC_000017.11:g.40016256C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016256C>A Locations: - p.H76Q (NCI-TCGA:ENST00000225474) - p.His76Gln (Ensembl:ENST00000225474) - c.228C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs898673974 | 76 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016254C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016254C>T Locations: - p.His76Tyr (Ensembl:ENST00000225474) - c.226C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
TCGA novel | 77 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016258C>T Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016258C>T Locations: - c.230C>T (NCI-TCGA:ENST00000225474) - p.P77L (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1331609792 | 77 | P>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016257C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016257C>T Locations: - p.Pro77Ser (Ensembl:ENST00000225474) - c.229C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV99842290 | 78 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.863) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.40016261A>G Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016261A>G Locations: - c.233A>G (NCI-TCGA:ENST00000225474) - p.E78G (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs763426127 | 78 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40016260G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016260G>A Locations: - p.Glu78Lys (Ensembl:ENST00000225474) - c.232G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
TCGA novel | 78 | E>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000017.11:g.40016256del Consequence type: frameshift Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016256del Locations: - c.231del (NCI-TCGA:ENST00000225474) - p.E78Rfs*17 (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1981378364 | 79 | E>* | gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.40016263G>T Codon: GAG/TAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016263G>T Locations: - p.Glu79Ter (Ensembl:ENST00000225474) - c.235G>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56641182 rs1981378364 | 79 | E>K | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.40016263G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016263G>A Locations: - p.Glu79Lys (Ensembl:ENST00000225474) - c.235G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981378603 | 79 | E>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016264A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016264A>T Locations: - p.Glu79Val (Ensembl:ENST00000225474) - c.236A>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981379011 | 81 | V>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000017.11:g.40016270T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016270T>C Locations: - p.Val81Ala (Ensembl:ENST00000225474) - c.242T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1338004479 | 81 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.94) Somatic: No Accession: NC_000017.11:g.40016269G>C, NC_000017.11:g.40016269G>T Codon: GGT/GCT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016269G>C, NC_000017.11:g.40016269G>T Locations: - p.Val81Leu (Ensembl:ENST00000225474) - c.241G>C (Ensembl:ENST00000225474) - c.241G>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV99842626 rs757845157 | 84 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.768) - SIFT: tolerated (0.82) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.00001915 (gnomAD) Accession: NC_000017.11:g.40016278G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016278G>A Locations: - p.G84R (NCI-TCGA:ENST00000225474) - p.Gly84Arg (Ensembl:ENST00000225474) - c.250G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1981380418 | 86 | S>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000017.11:g.40016284T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016284T>A Locations: - p.Ser86Thr (Ensembl:ENST00000225474) - c.256T>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
TCGA novel | 88 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016291G>T Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016291G>T Locations: - c.263G>T (NCI-TCGA:ENST00000225474) - p.G88V (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs749993200 | 89 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40016294T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016294T>C Locations: - p.Ile89Thr (Ensembl:ENST00000225474) - c.266T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
TCGA novel | 90 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40016297C>A Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016297C>A Locations: - c.269C>A (NCI-TCGA:ENST00000225474) - p.P90H (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1261255820 | 90 | P>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000017.11:g.40016296C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016296C>T Locations: - p.Pro90Ser (Ensembl:ENST00000225474) - c.268C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV105044958 rs1490914857 | 92 | A>V | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: Yes Accession: NC_000017.11:g.40016303C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016303C>T Locations: - p.Ala92Val (Ensembl:ENST00000225474) - c.275C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56640160 rs1378051560 | 95 | S>N | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000017.11:g.40016312G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016312G>A Locations: - p.Ser95Asn (Ensembl:ENST00000225474) - c.284G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs749012642 | 96 | S>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000017.11:g.40016314A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016314A>G Locations: - p.Ser96Gly (Ensembl:ENST00000225474) - c.286A>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1170676298 | 96 | S>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000017.11:g.40016315G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016315G>A Locations: - p.Ser96Asn (Ensembl:ENST00000225474) - c.287G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1419730121 | 98 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: NC_000017.11:g.40016320C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016320C>G Locations: - p.Pro98Ala (Ensembl:ENST00000225474) - c.292C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981383656 | 99 | S>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40016324G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016324G>A Locations: - p.Ser99Asn (Ensembl:ENST00000225474) - c.296G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981383848 | 100 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.40016328G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016328G>C Locations: - p.Gln100His (Ensembl:ENST00000225474) - c.300G>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs200124627 | 101 | A>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.78) Somatic: No Accession: NC_000017.11:g.40016329G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016329G>A Locations: - p.Ala101Thr (Ensembl:ENST00000225474) - c.301G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56640140 rs1598322727 | 101 | A>V | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000017.11:g.40016330C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016330C>T Locations: - p.Ala101Val (Ensembl:ENST00000225474) - c.302C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56642070 rs373191696 | 102 | L>P | cosmic curated ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000017.11:g.40016333T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016333T>C Locations: - p.Leu102Pro (Ensembl:ENST00000225474) - c.305T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs373191696 | 102 | L>Q | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40016333T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016333T>A Locations: - p.Leu102Gln (Ensembl:ENST00000225474) - c.305T>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
COSV56640556 | 105 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000017.11:g.40016485G>A Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016485G>A Locations: - c.313G>A (NCI-TCGA:ENST00000225474) - p.A105T (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: | |||||||
TCGA novel | 105 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.40016486C>T Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016486C>T Locations: - c.314C>T (NCI-TCGA:ENST00000225474) - p.A105V (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs754670741 | 106 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: NC_000017.11:g.40016489G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016489G>C Locations: - p.Gly106Ala (Ensembl:ENST00000225474) - c.317G>C (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs754670741 | 106 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.40016489G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016489G>A Locations: - p.Gly106Asp (Ensembl:ENST00000225474) - c.317G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
COSV106081978 rs1187200447 | 107 | C>R | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.40016491T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016491T>C Locations: - p.Cys107Arg (Ensembl:ENST00000225474) - c.319T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs777777864 | 110 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40016500C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016500C>G Locations: - p.Gln110Glu (Ensembl:ENST00000225474) - c.328C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981397438 | 110 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016502A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016502A>C Locations: - p.Gln110His (Ensembl:ENST00000225474) - c.330A>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1732775035 | 111 | L>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016503C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016503C>T Locations: - p.Leu111Phe (Ensembl:ENST00000225474) - c.331C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56641213 COSV56641213,COSV99842449 COSV99842449 | 113 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.42) Somatic: Yes Accession: NC_000017.11:g.40016511C>G Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016511C>G Locations: - c.339C>G (NCI-TCGA:ENST00000225474) - p.S113R (NCI-TCGA:ENST00000225474) Source type: large scale study | |||||||
COSV56641636 rs769990271 | 114 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: deleterious (0.04) - SIFT: tolerated (0.08) Somatic: Yes Population frequencies: - MAF: 0.00003983 (gnomAD) Accession: NC_000017.11:g.40016512G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016512G>A Locations: - p.G114S (NCI-TCGA:ENST00000225474) - p.Gly114Ser (Ensembl:ENST00000225474) - c.340G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
COSV99842349 | 115 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.40016515C>G Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016515C>G Locations: - c.343C>G (NCI-TCGA:ENST00000225474) - p.L115V (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56640127 rs1177855556 | 119 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.18) - SIFT: tolerated (0.14) Somatic: Yes Population frequencies: - MAF: 0.000007965 (gnomAD) Accession: NC_000017.11:g.40016528A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016528A>G Locations: - p.Q119R (NCI-TCGA:ENST00000225474) - p.Gln119Arg (Ensembl:ENST00000225474) - c.356A>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1981399156 | 120 | G>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40016531G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016531G>A Locations: - p.Gly120Glu (Ensembl:ENST00000225474) - c.359G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981398952 | 120 | G>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.40016530G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016530G>C Locations: - p.Gly120Arg (Ensembl:ENST00000225474) - c.358G>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs749503197 | 121 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.40016533C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016533C>G Locations: - p.Leu121Val (Ensembl:ENST00000225474) - c.361C>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1981400039 | 124 | A>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40016543C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016543C>T Locations: - p.Ala124Val (Ensembl:ENST00000225474) - c.371C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs762262454 | 126 | E>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.40016549A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016549A>T Locations: - p.Glu126Val (Ensembl:ENST00000225474) - c.377A>T (Ensembl:ENST00000225474) Source type: large scale study | |||||||
COSV106388259 rs143679996 | 127 | G>E | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: Yes Accession: NC_000017.11:g.40016552G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016552G>A Locations: - p.Gly127Glu (Ensembl:ENST00000225474) - c.380G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1401569741 | 128 | I>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: NC_000017.11:g.40016554A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016554A>C Locations: - p.Ile128Leu (Ensembl:ENST00000225474) - c.382A>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs145136406 | 130 | P>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016561C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016561C>A Locations: - p.Pro130His (Ensembl:ENST00000225474) - c.389C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs145136406 | 130 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016561C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016561C>T Locations: - p.Pro130Leu (Ensembl:ENST00000225474) - c.389C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56641059 rs368443474 | 131 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: tolerated (0.31) - SIFT: tolerated (0.33) Somatic: Yes Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000017.11:g.40016563G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016563G>A Locations: - p.E131K (NCI-TCGA:ENST00000225474) - p.Glu131Lys (Ensembl:ENST00000225474) - c.391G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs142286142 | 132 | L>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000017.11:g.40016567T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016567T>C Locations: - p.Leu132Ser (Ensembl:ENST00000225474) - c.395T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs987955582 | 134 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.40016572C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016572C>G Locations: - p.Pro134Ala (Ensembl:ENST00000225474) - c.400C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs987955582 | 134 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000017.11:g.40016572C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016572C>T Locations: - p.Pro134Ser (Ensembl:ENST00000225474) - c.400C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1024291938 | 135 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.40016576C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016576C>T Locations: - p.Thr135Ile (Ensembl:ENST00000225474) - c.404C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981403957 | 136 | L>W | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016579T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016579T>G Locations: - p.Leu136Trp (Ensembl:ENST00000225474) - c.407T>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1279083078 | 138 | T>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.40016584A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016584A>G Locations: - p.Thr138Ala (Ensembl:ENST00000225474) - c.412A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981404365 | 138 | T>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.40016585C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016585C>T Locations: - p.Thr138Ile (Ensembl:ENST00000225474) - c.413C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981405051 | 140 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.40016590C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016590C>T Locations: - p.Gln140Ter (Ensembl:ENST00000225474) - c.418C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs375245553 | 142 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40016598C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016598C>A Locations: - p.Asp142Glu (Ensembl:ENST00000225474) - c.426C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1237881157 | 142 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016597A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016597A>G Locations: - p.Asp142Gly (Ensembl:ENST00000225474) - c.425A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1454976827 | 142 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016596G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016596G>A Locations: - p.Asp142Asn (Ensembl:ENST00000225474) - c.424G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1454976827 | 142 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016596G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016596G>T Locations: - p.Asp142Tyr (Ensembl:ENST00000225474) - c.424G>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs757308934 | 143 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000017.11:g.40016599G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016599G>A Locations: - p.Val143Ile (Ensembl:ENST00000225474) - c.427G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
COSV56642119 | 144 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.43) Somatic: Yes Accession: NC_000017.11:g.40016602G>T Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016602G>T Locations: - c.430G>T (NCI-TCGA:ENST00000225474) - p.A144S (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs749415034 | 144 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000017.11:g.40016602G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016602G>A Locations: - p.Ala144Thr (Ensembl:ENST00000225474) - c.430G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
COSV56640787 rs375506229 | 145 | D>N | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.88) Somatic: Yes Accession: NC_000017.11:g.40016605G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016605G>A Locations: - p.Asp145Asn (Ensembl:ENST00000225474) - c.433G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs375506229 | 145 | D>Y | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016605G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016605G>T Locations: - p.Asp145Tyr (Ensembl:ENST00000225474) - c.433G>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981407521 | 148 | T>I | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.40016615C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016615C>T Locations: - p.Thr148Ile (Ensembl:ENST00000225474) - c.443C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56640196 rs772466210 | 149 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.665) - SIFT: deleterious (0.02) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00007167 (gnomAD) Accession: NC_000017.11:g.40016618C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016618C>T Locations: - p.T149I (NCI-TCGA:ENST00000225474) - p.Thr149Ile (Ensembl:ENST00000225474) - c.446C>T (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs761136068 | 150 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.40016620A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016620A>G Locations: - p.Ile150Val (Ensembl:ENST00000225474) - c.448A>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1981408734 | 151 | W>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.40016623T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016623T>C Locations: - p.Trp151Arg (Ensembl:ENST00000225474) - c.451T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1485995176 | 154 | M>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40016795A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016795A>C Locations: - p.Met154Leu (Ensembl:ENST00000225474) - c.460A>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981420927 | 156 | E>D | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.40016803A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016803A>T Locations: - p.Glu156Asp (Ensembl:ENST00000225474) - c.468A>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
VAR_013073 COSV99045482 RCV000884641 rs2227329 | 157 | L>M | Benign (Ensembl, ClinVar) | UniProt cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00799 (ClinVar) Accession: NC_000017.11:g.40016804C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016804C>A Locations: - p.Leu157Met (UniProt:P09919) Source type: mixed | |||||||
COSV105825314 rs1981422004 | 158 | G>E | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.40016808G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016808G>A Locations: - p.Gly158Glu (Ensembl:ENST00000225474) - c.473G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1336800290 | 159 | M>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.40016812G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016812G>A Locations: - p.Met159Ile (Ensembl:ENST00000225474) - c.477G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1388259401 | 160 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.40016813G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016813G>T Locations: - p.Ala160Ser (Ensembl:ENST00000225474) - c.478G>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981423373 | 163 | L>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.40016823T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016823T>C Locations: - p.Leu163Pro (Ensembl:ENST00000225474) - c.488T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1014098323 | 164 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000017.11:g.40016827G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016827G>T Locations: - p.Gln164His (Ensembl:ENST00000225474) - c.492G>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV105843407 rs1981423580 | 164 | Q>K | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: Yes Accession: NC_000017.11:g.40016825C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016825C>A Locations: - p.Gln164Lys (Ensembl:ENST00000225474) - c.490C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs141665234 | 164 | Q>P | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.40016826A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016826A>C Locations: - p.Gln164Pro (Ensembl:ENST00000225474) - c.491A>C (Ensembl:ENST00000225474) Source type: large scale study | |||||||
COSV99842218 rs141665234 | 164 | Q>R | cosmic curated ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000017.11:g.40016826A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016826A>G Locations: - p.Gln164Arg (Ensembl:ENST00000225474) - c.491A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1340012463 | 165 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016829C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016829C>A Locations: - p.Pro165His (Ensembl:ENST00000225474) - c.494C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs2144837597 | 166 | T>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40016831A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016831A>C Locations: - p.Thr166Pro (Ensembl:ENST00000225474) - c.496A>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs746429744 | 167 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.40016836G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016836G>T Locations: - p.Gln167His (Ensembl:ENST00000225474) - c.501G>T (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1981424819 | 169 | A>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.40016840G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016840G>A Locations: - p.Ala169Thr (Ensembl:ENST00000225474) - c.505G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1387150424 | 170 | M>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016845G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016845G>A Locations: - p.Met170Ile (Ensembl:ENST00000225474) - c.510G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1369385286 | 170 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000017.11:g.40016844T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016844T>C Locations: - p.Met170Thr (Ensembl:ENST00000225474) - c.509T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1045209841 | 171 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.40016847C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016847C>T Locations: - p.Pro171Leu (Ensembl:ENST00000225474) - c.512C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981425693 | 171 | P>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016846C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016846C>T Locations: - p.Pro171Ser (Ensembl:ENST00000225474) - c.511C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981425693 | 171 | P>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016846C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016846C>A Locations: - p.Pro171Thr (Ensembl:ENST00000225474) - c.511C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs2227330 | 174 | A>P | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000017.11:g.40016855G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016855G>C Locations: - p.Ala174Pro (Ensembl:ENST00000225474) - c.520G>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
VAR_013074 COSV56641447 RCV000893864 rs2227330 | 174 | A>T | Benign (Ensembl, ClinVar) | UniProt cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00879 (ClinVar) Accession: NC_000017.11:g.40016855G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016855G>A Locations: - p.Ala174Thr (UniProt:P09919) Source type: mixed | |||||||
rs1477208804 | 175 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016858T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016858T>G Locations: - p.Ser175Ala (Ensembl:ENST00000225474) - c.523T>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs763688260 | 175 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016859C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016859C>G Locations: - p.Ser175Cys (Ensembl:ENST00000225474) - c.524C>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs763688260 | 175 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016859C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016859C>T Locations: - p.Ser175Phe (Ensembl:ENST00000225474) - c.524C>T (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1981428361 | 177 | F>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016864T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016864T>A Locations: - p.Phe177Ile (Ensembl:ENST00000225474) - c.529T>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs144408123 | 179 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016870C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016870C>T Locations: - p.Arg179Cys (Ensembl:ENST00000225474) - c.535C>T (Ensembl:ENST00000225474) Source type: large scale study | |||||||
COSV56639974 rs767498933 | 179 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.15) - SIFT: tolerated (0.38) Somatic: Yes Population frequencies: - MAF: 0.000003983 (gnomAD) Accession: NC_000017.11:g.40016871G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016871G>A Locations: - p.R179H (NCI-TCGA:ENST00000225474) - p.Arg179His (Ensembl:ENST00000225474) - c.536G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs767498933 | 179 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016871G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016871G>C Locations: - p.Arg179Pro (Ensembl:ENST00000225474) - c.536G>C (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs144408123 | 179 | R>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016870C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016870C>A Locations: - p.Arg179Ser (Ensembl:ENST00000225474) - c.535C>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1382011778 | 180 | R>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016873C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016873C>G Locations: - p.Arg180Gly (Ensembl:ENST00000225474) - c.538C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs190847104 | 180 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016874G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016874G>C Locations: - p.Arg180Pro (Ensembl:ENST00000225474) - c.539G>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56640845 rs190847104 | 180 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.68) - SIFT: tolerated (0.91) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000017.11:g.40016874G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016874G>A Locations: - p.R180Q (NCI-TCGA:ENST00000225474) - p.Arg180Gln (Ensembl:ENST00000225474) - c.539G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
COSV56640580 rs1382011778 | 180 | R>W | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.40016873C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016873C>T Locations: - p.Arg180Trp (Ensembl:ENST00000225474) - c.538C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981429678 | 181 | A>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: NC_000017.11:g.40016877C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016877C>T Locations: - p.Ala181Val (Ensembl:ENST00000225474) - c.542C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs765324783 | 184 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.40016886T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016886T>C Locations: - p.Val184Ala (Ensembl:ENST00000225474) - c.551T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1273722957 | 184 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: NC_000017.11:g.40016885G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016885G>T Locations: - p.Val184Phe (Ensembl:ENST00000225474) - c.550G>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs765324783 | 184 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016886T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016886T>G Locations: - p.Val184Gly (Ensembl:ENST00000225474) - c.551T>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1159317798 | 186 | V>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016892T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016892T>A Locations: - p.Val186Asp (Ensembl:ENST00000225474) - c.557T>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981431744 | 187 | A>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.40016895C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016895C>T Locations: - p.Ala187Val (Ensembl:ENST00000225474) - c.560C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56641233 | 188 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.40016898C>G Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016898C>G Locations: - c.563C>G (NCI-TCGA:ENST00000225474) - p.S188C (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs777983866 | 188 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016898C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016898C>T Locations: - p.Ser188Phe (Ensembl:ENST00000225474) - c.563C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs777983866 | 188 | S>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016898C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016898C>A Locations: - p.Ser188Tyr (Ensembl:ENST00000225474) - c.563C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs747305350 | 189 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.40016902T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016902T>A Locations: - p.His189Gln (Ensembl:ENST00000225474) - c.567T>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs757612684 | 190 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016903C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016903C>G Locations: - p.Leu190Val (Ensembl:ENST00000225474) - c.568C>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1981433192 | 191 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.40016906C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016906C>A Locations: - p.Gln191Lys (Ensembl:ENST00000225474) - c.571C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV99842379 rs781596455 | 194 | L>R | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.40016916T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016916T>G Locations: - p.Leu194Arg (Ensembl:ENST00000225474) - c.581T>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
COSV56639999 rs201491834 | 197 | S>L | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.40016925C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016925C>T Locations: - p.Ser197Leu (Ensembl:ENST00000225474) - c.590C>T (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs201491834 | 197 | S>W | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016925C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016925C>G Locations: - p.Ser197Trp (Ensembl:ENST00000225474) - c.590C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1309890501 | 198 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.40016929C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016929C>A Locations: - p.Tyr198Ter (Ensembl:ENST00000225474) - c.594C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1448991064 | 198 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.40016927T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016927T>C Locations: - p.Tyr198His (Ensembl:ENST00000225474) - c.592T>C (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1375440841 | 199 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40016930C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016930C>T Locations: - p.Arg199Cys (Ensembl:ENST00000225474) - c.595C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs369747010 | 199 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.40016931G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016931G>A Locations: - p.Arg199His (Ensembl:ENST00000225474) - c.596G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1375440841 | 199 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016930C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016930C>A Locations: - p.Arg199Ser (Ensembl:ENST00000225474) - c.595C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV99842439 | 200 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000017.11:g.40016934T>C Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016934T>C Locations: - c.599T>C (NCI-TCGA:ENST00000225474) - p.V200A (NCI-TCGA:ENST00000225474) Source type: large scale study Cross-references: | |||||||
COSV56641328 rs1321986970 | 200 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.1) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.0000205 (gnomAD) Accession: NC_000017.11:g.40016933G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016933G>A Locations: - p.V200I (NCI-TCGA:ENST00000225474) - p.Val200Ile (Ensembl:ENST00000225474) - c.598G>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs145311241 | 202 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016939C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016939C>T Locations: - p.Arg202Cys (Ensembl:ENST00000225474) - c.604C>T (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs145311241 | 202 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016939C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016939C>G Locations: - p.Arg202Gly (Ensembl:ENST00000225474) - c.604C>G (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs547038752 | 202 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.40016940G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016940G>A Locations: - p.Arg202His (Ensembl:ENST00000225474) - c.605G>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs145311241 | 202 | R>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016939C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016939C>A Locations: - p.Arg202Ser (Ensembl:ENST00000225474) - c.604C>A (Ensembl:ENST00000225474) Source type: large scale study | |||||||
rs1459481080 | 203 | H>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.40016942C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016942C>A Locations: - p.His203Asn (Ensembl:ENST00000225474) - c.607C>A (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1179742251 | 203 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.40016944C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016944C>G Locations: - p.His203Gln (Ensembl:ENST00000225474) - c.609C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1169099361 | 204 | L>F | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.40016945C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016945C>T Locations: - p.Leu204Phe (Ensembl:ENST00000225474) - c.610C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1169099361 | 204 | L>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.40016945C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016945C>G Locations: - p.Leu204Val (Ensembl:ENST00000225474) - c.610C>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981437520 | 205 | A>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.40016949C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016949C>T Locations: - p.Ala205Val (Ensembl:ENST00000225474) - c.614C>T (Ensembl:ENST00000225474) Source type: large scale study Cross-references: | |||||||
rs1981437742 | 206 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.84) Somatic: No Accession: NC_000017.11:g.40016952A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q21.1 Genomic location: NC_000017.11:g.40016952A>G Locations: - p.Gln206Arg (Ensembl:ENST00000225474) - c.617A>G (Ensembl:ENST00000225474) Source type: large scale study Cross-references: |