R4GNG2 · R4GNG2_HUMAN
- ProteinAutocrine motility factor receptor
- GeneAMFR
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids299 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1961192483 | 1 | Y>* | Ensembl | ||||
Consequence: missense Somatic: No Accession: NC_000016.10:g.56403115A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403115A>C Locations: - p.Tyr1Ter (Ensembl:ENST00000492830) - c.3T>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1467236654 | 4 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403108T>G Codon: ACA/CCA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403108T>G Locations: - p.Thr4Pro (Ensembl:ENST00000492830) - c.10A>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961192085 | 5 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403104G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403104G>C Locations: - p.Ser5Cys (Ensembl:ENST00000492830) - c.14C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961192085 | 5 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403104G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403104G>A Locations: - p.Ser5Phe (Ensembl:ENST00000492830) - c.14C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961192085 | 5 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403104G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403104G>T Locations: - p.Ser5Tyr (Ensembl:ENST00000492830) - c.14C>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs773904261 | 6 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403102C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403102C>G Locations: - p.Gly6Arg (Ensembl:ENST00000492830) - c.16G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs768126600 | 9 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000016.10:g.56403091C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403091C>T Locations: - p.Trp9Ter (Ensembl:ENST00000492830) - c.27G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs768126600 | 9 | W>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403091C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403091C>A Locations: - p.Trp9Cys (Ensembl:ENST00000492830) - c.27G>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
COSV51922530 rs1961191710 | 9 | W>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.56403093A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403093A>G Locations: - p.W9R (NCI-TCGA:ENST00000492830) - p.Trp9Arg (Ensembl:ENST00000492830) - c.25T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961191192 | 10 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.64) Somatic: No Accession: NC_000016.10:g.56403090G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403090G>A Locations: - p.Pro10Ser (Ensembl:ENST00000492830) - c.28C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961191192 | 10 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000016.10:g.56403090G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403090G>T Locations: - p.Pro10Thr (Ensembl:ENST00000492830) - c.28C>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1440855012 | 11 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.56403086G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403086G>A Locations: - p.Ala11Val (Ensembl:ENST00000492830) - c.32C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2143843989 | 12 | W>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403083C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403083C>A Locations: - p.Trp12Leu (Ensembl:ENST00000492830) - c.35G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1280025394 | 17 | S>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403068C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403068C>A Locations: - p.Ser17Ile (Ensembl:ENST00000492830) - c.50G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1280025394 | 17 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403068C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403068C>G Locations: - p.Ser17Thr (Ensembl:ENST00000492830) - c.50G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961190606 | 18 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403065C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403065C>A Locations: - p.Cys18Phe (Ensembl:ENST00000492830) - c.53G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs749008653 | 19 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000016.10:g.56403063C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403063C>T Locations: - p.Val19Ile (Ensembl:ENST00000492830) - c.55G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs779561530 | 21 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403057A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403057A>G Locations: - p.Cys21Arg (Ensembl:ENST00000492830) - c.61T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1226279790 | 22 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000016.10:g.56403052G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403052G>C Locations: - p.Phe22Leu (Ensembl:ENST00000492830) - c.66C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1441864288 | 23 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403051T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403051T>G Locations: - p.Met23Leu (Ensembl:ENST00000492830) - c.67A>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs535103984 | 23 | M>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403050A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403050A>G Locations: - p.Met23Thr (Ensembl:ENST00000492830) - c.68T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1441864288 | 23 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403051T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403051T>C Locations: - p.Met23Val (Ensembl:ENST00000492830) - c.67A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs747339125 | 24 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000016.10:g.56403047C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403047C>T Locations: - p.Arg24Lys (Ensembl:ENST00000492830) - c.71G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1961189254 | 25 | C>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.56403043G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403043G>C Locations: - p.Cys25Trp (Ensembl:ENST00000492830) - c.75C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs111744284 | 26 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000016.10:g.56403041T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403041T>C Locations: - p.Asn26Ser (Ensembl:ENST00000492830) - c.77A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1283640910 | 27 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.92) Somatic: No Accession: NC_000016.10:g.56403039C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403039C>T Locations: - p.Val27Ile (Ensembl:ENST00000492830) - c.79G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs201373259 | 30 | V>I | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000016.10:g.56403030C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403030C>T Locations: - p.Val30Ile (Ensembl:ENST00000492830) - c.88G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs765477204 | 31 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00003181 (gnomAD) Accession: NC_000016.10:g.56403027C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403027C>T Locations: - p.G31S (NCI-TCGA:ENST00000492830) - p.Gly31Ser (Ensembl:ENST00000492830) - c.91G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs755093790 | 32 | T>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56403023G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403023G>C Locations: - p.Thr32Arg (Ensembl:ENST00000492830) - c.95C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51920340 rs1961187168 | 33 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000016.10:g.56403020C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403020C>A Locations: - p.R33I (NCI-TCGA:ENST00000492830) - p.Arg33Ile (Ensembl:ENST00000492830) - c.98G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961186847 | 34 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.56403018T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403018T>C Locations: - p.Thr34Ala (Ensembl:ENST00000492830) - c.100A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2143843677 | 35 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.56403014A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403014A>G Locations: - p.Ile35Thr (Ensembl:ENST00000492830) - c.104T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1397472616 | 35 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000016.10:g.56403015T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403015T>C Locations: - p.Ile35Val (Ensembl:ENST00000492830) - c.103A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1442393849 | 36 | Y>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.56403011T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403011T>A Locations: - p.Tyr36Phe (Ensembl:ENST00000492830) - c.107A>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51922857 rs766511582 | 37 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000016.10:g.56403009C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403009C>T Locations: - p.V37M (NCI-TCGA:ENST00000492830) - p.Val37Met (Ensembl:ENST00000492830) - c.109G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1297977252 | 38 | W>* | gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000016.10:g.56403004C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403004C>T Locations: - p.Trp38Ter (Ensembl:ENST00000492830) - c.114G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1420646281 | 40 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000016.10:g.56403000C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56403000C>T Locations: - p.Glu40Lys (Ensembl:ENST00000492830) - c.118G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV99315692 rs1382723707 | 42 | W>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000016.10:g.56402994A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56402994A>G Locations: - p.W42R (NCI-TCGA:ENST00000492830) - p.Trp42Arg (Ensembl:ENST00000492830) - c.124T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs950347913 | 43 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56402990C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56402990C>T Locations: - p.Arg43Lys (Ensembl:ENST00000492830) - c.128G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs760906789 | 43 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56402989C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56402989C>A Locations: - p.Arg43Ser (Ensembl:ENST00000492830) - c.129G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs772907883 | 45 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56402985C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56402985C>G Locations: - p.Gly45Arg (Ensembl:ENST00000492830) - c.133G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs761585749 | 46 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.56401839C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401839C>A Locations: - p.Leu46Phe (Ensembl:ENST00000492830) - c.138G>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs369433667 | 46 | L>S | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.56401840A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401840A>G Locations: - p.Leu46Ser (Ensembl:ENST00000492830) - c.137T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs369433667 | 46 | L>W | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.56401840A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401840A>C Locations: - p.Leu46Trp (Ensembl:ENST00000492830) - c.137T>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961151207 | 47 | Q>* | TOPMed | ||||
Consequence: missense Somatic: No Accession: NC_000016.10:g.56401838G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401838G>A Locations: - p.Gln47Ter (Ensembl:ENST00000492830) - c.139C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1246228907 | 47 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000016.10:g.56401837T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401837T>C Locations: - p.Gln47Arg (Ensembl:ENST00000492830) - c.140A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2143840266 | 48 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000016.10:g.56401833C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401833C>A Locations: - p.Leu48Phe (Ensembl:ENST00000492830) - c.144G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs751299795 | 51 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.56401824C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401824C>G Locations: - p.Gln51His (Ensembl:ENST00000492830) - c.153G>C (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs764024142 | 53 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.56401818G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401818G>T Locations: - p.Ser53Arg (Ensembl:ENST00000492830) - c.159C>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1218934932 | 55 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000016.10:g.56401813A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401813A>G Locations: - p.Leu55Pro (Ensembl:ENST00000492830) - c.164T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51921317 rs1341972825 | 57 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Population frequencies: - MAF: 0.00000398 (gnomAD) Accession: NC_000016.10:g.56401808T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401808T>C Locations: - p.T57A (NCI-TCGA:ENST00000492830) - p.Thr57Ala (Ensembl:ENST00000492830) - c.169A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1273450054 | 57 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.56401807G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401807G>A Locations: - p.Thr57Ile (Ensembl:ENST00000492830) - c.170C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1332203164 | 58 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000016.10:g.56401803C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401803C>T Locations: - p.Met58Ile (Ensembl:ENST00000492830) - c.174G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs774911930 | 58 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.56401805T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401805T>A Locations: - p.Met58Leu (Ensembl:ENST00000492830) - c.172A>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs774911930 | 58 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000016.10:g.56401805T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401805T>C Locations: - p.Met58Val (Ensembl:ENST00000492830) - c.172A>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1326172675 | 59 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56401801G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401801G>A Locations: - p.Thr59Met (Ensembl:ENST00000492830) - c.176C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1404992121 | 61 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.56401795A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401795A>G Locations: - p.Val61Ala (Ensembl:ENST00000492830) - c.182T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs759176795 | 64 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000016.10:g.56401786A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401786A>G Locations: - p.Val64Ala (Ensembl:ENST00000492830) - c.191T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1171466371 | 66 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000016.10:g.56401781T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401781T>C Locations: - p.Thr66Ala (Ensembl:ENST00000492830) - c.196A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs151301190 | 66 | T>N | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56401780G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401780G>T Locations: - p.Thr66Asn (Ensembl:ENST00000492830) - c.197C>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs151301190 | 66 | T>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.56401780G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401780G>C Locations: - p.Thr66Ser (Ensembl:ENST00000492830) - c.197C>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs200259295 | 68 | C>* | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000016.10:g.56401773G>T Codon: TGC/TGA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401773G>T Locations: - p.Cys68Ter (Ensembl:ENST00000492830) - c.204C>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs202121611 | 68 | C>F | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.56401774C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401774C>A Locations: - p.Cys68Phe (Ensembl:ENST00000492830) - c.203G>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1157300144 | 69 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.553) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.56401770C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401770C>G Locations: - p.Arg69Ser (Ensembl:ENST00000492830) - c.207G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs769305833 | 71 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000016.10:g.56401766G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401766G>A Locations: - p.R71C (NCI-TCGA:ENST00000492830) - p.Arg71Cys (Ensembl:ENST00000492830) - c.211C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs758030819 | 71 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000016.10:g.56401765C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401765C>T Locations: - p.Arg71His (Ensembl:ENST00000492830) - c.212G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
COSV51920040 rs756216374 | 72 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Population frequencies: - MAF: 0.000007956 (gnomAD) Accession: NC_000016.10:g.56401763C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401763C>T Locations: - p.G72R (NCI-TCGA:ENST00000492830) - p.Gly72Arg (Ensembl:ENST00000492830) - c.214G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs150798359 | 73 | N>D | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56401760T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401760T>C Locations: - p.Asn73Asp (Ensembl:ENST00000492830) - c.217A>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs150798359 | 73 | N>H | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56401760T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401760T>G Locations: - p.Asn73His (Ensembl:ENST00000492830) - c.217A>C (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1961147926 | 73 | N>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56401759T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401759T>A Locations: - p.Asn73Ile (Ensembl:ENST00000492830) - c.218A>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1308925422 | 73 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.729) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56401758G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401758G>T Locations: - p.Asn73Lys (Ensembl:ENST00000492830) - c.219C>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961147718 | 74 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000016.10:g.56401756C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401756C>A Locations: - p.Cys74Phe (Ensembl:ENST00000492830) - c.221G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2143839923 | 76 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000016.10:g.56401750A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401750A>G Locations: - p.Val76Ala (Ensembl:ENST00000492830) - c.227T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961147357 | 77 | D>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.56401747T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401747T>G Locations: - p.Asp77Ala (Ensembl:ENST00000492830) - c.230A>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1218257208 | 78 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.56401743G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401743G>C Locations: - p.Ile78Met (Ensembl:ENST00000492830) - c.234C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1016546528 | 78 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.56401744A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401744A>G Locations: - p.Ile78Thr (Ensembl:ENST00000492830) - c.233T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1961146964 | 79 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56401741A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56401741A>G Locations: - p.Phe79Ser (Ensembl:ENST00000492830) - c.236T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs533227435 | 82 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.56386021C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56386021C>A Locations: - p.Arg82Ser (Ensembl:ENST00000492830) - c.246G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51922153 rs1393940024 | 84 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56386016C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56386016C>T Locations: - p.R84Q (NCI-TCGA:ENST00000492830) - p.Arg84Gln (Ensembl:ENST00000492830) - c.251G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1960639093 | 84 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56386017G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56386017G>A Locations: - p.R84W (NCI-TCGA:ENST00000492830) - p.Arg84Trp (Ensembl:ENST00000492830) - c.250C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1276772500 | 86 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.762) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000016.10:g.56386010G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56386010G>A Locations: - p.Ala86Val (Ensembl:ENST00000492830) - c.257C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51922948 rs1313900274 | 90 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56385998G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385998G>A Locations: - p.P90L (NCI-TCGA:ENST00000492830) - p.Pro90Leu (Ensembl:ENST00000492830) - c.269C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1596910762 | 91 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56385994A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385994A>C Locations: - p.Ser91Arg (Ensembl:ENST00000492830) - c.273T>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs756983668 | 93 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56385989G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385989G>A Locations: - p.Ser93Leu (Ensembl:ENST00000492830) - c.278C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1001558731 | 96 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56385981C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385981C>T Locations: - p.Val96Met (Ensembl:ENST00000492830) - c.286G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1423467246 | 99 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.56385971G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385971G>C Locations: - p.Thr99Ser (Ensembl:ENST00000492830) - c.296C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1960637347 | 100 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.771) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.56385969T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385969T>C Locations: - p.Thr100Ala (Ensembl:ENST00000492830) - c.298A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs200380370 | 101 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56385965T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385965T>C Locations: - p.Asn101Ser (Ensembl:ENST00000492830) - c.302A>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs754134863 | 102 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.56385961A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385961A>C Locations: - p.Ile102Met (Ensembl:ENST00000492830) - c.306T>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1211360303 | 104 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.571) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.56385956C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385956C>T Locations: - p.Gly104Asp (Ensembl:ENST00000492830) - c.311G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs761117811 | 105 | I>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.56385954T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385954T>C Locations: - p.Ile105Val (Ensembl:ENST00000492830) - c.313A>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1215877770 | 106 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.56385951T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385951T>C Locations: - p.Thr106Ala (Ensembl:ENST00000492830) - c.316A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs139530029 | 106 | T>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56385950G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385950G>A Locations: - p.Thr106Met (Ensembl:ENST00000492830) - c.317C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1241932870 | 107 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.56385946C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385946C>A Locations: - p.Gln107His (Ensembl:ENST00000492830) - c.321G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1339526362 | 108 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56385945C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385945C>A Locations: - p.Ala108Ser (Ensembl:ENST00000492830) - c.322G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1293577986 | 109 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.513) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.56385942T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385942T>C Locations: - p.Ser109Gly (Ensembl:ENST00000492830) - c.325A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1596910645 | 110 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56385939T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385939T>C Locations: - p.Asn110Asp (Ensembl:ENST00000492830) - c.328A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1960635618 | 110 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56385937G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385937G>C Locations: - p.Asn110Lys (Ensembl:ENST00000492830) - c.330C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1960635774 | 110 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56385938T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385938T>C Locations: - p.Asn110Ser (Ensembl:ENST00000492830) - c.329A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs762158280 | 114 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.56385926T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385926T>C Locations: - p.Asn114Ser (Ensembl:ENST00000492830) - c.341A>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
COSV51922333 rs370219059 | 116 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ESP TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003985 (gnomAD) Accession: NC_000016.10:g.56385921T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56385921T>C Locations: - p.M116V (NCI-TCGA:ENST00000492830) - p.Met116Val (Ensembl:ENST00000492830) - c.346A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs761815566 | 117 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369327C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369327C>A Locations: - p.Ala117Ser (Ensembl:ENST00000492830) - c.349G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs762380239 | 118 | H>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.513) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.56369323T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369323T>A Locations: - p.His118Leu (Ensembl:ENST00000492830) - c.353A>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs762380239 | 118 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000016.10:g.56369323T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369323T>C Locations: - p.His118Arg (Ensembl:ENST00000492830) - c.353A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs774427539 | 118 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.821) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369324G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369324G>A Locations: - p.His118Tyr (Ensembl:ENST00000492830) - c.352C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs764446288 | 119 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369320T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369320T>C Locations: - p.Gln119Arg (Ensembl:ENST00000492830) - c.356A>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1474400860 | 121 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.56369315G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369315G>C Locations: - p.Gln121Glu (Ensembl:ENST00000492830) - c.361C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1214944180 | 123 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369307C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369307C>T Locations: - p.Met123Ile (Ensembl:ENST00000492830) - c.369G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1214774082 | 130 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.56369287T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369287T>C Locations: - p.His130Arg (Ensembl:ENST00000492830) - c.389A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1341959964 | 131 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000016.10:g.56369285G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369285G>C Locations: - p.Leu131Val (Ensembl:ENST00000492830) - c.391C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038162038 | 132 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000016.10:g.56369282C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369282C>T Locations: - p.Val132Ile (Ensembl:ENST00000492830) - c.394G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1233174971 | 133 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.571) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369278A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369278A>C Locations: - p.Leu133Arg (Ensembl:ENST00000492830) - c.398T>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1476987616 | 137 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369265C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369265C>A Locations: - p.Gln137His (Ensembl:ENST00000492830) - c.411G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs746531745 | 139 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.56369261T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369261T>A Locations: - p.Thr139Ser (Ensembl:ENST00000492830) - c.415A>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1399609784 | 140 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369258G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369258G>A Locations: - p.Arg140Cys (Ensembl:ENST00000492830) - c.418C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs777288075 | 140 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.545) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000016.10:g.56369257C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369257C>T Locations: - p.R140H (NCI-TCGA:ENST00000492830) - p.Arg140His (Ensembl:ENST00000492830) - c.419G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs777288075 | 140 | R>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369257C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369257C>A Locations: - p.Arg140Leu (Ensembl:ENST00000492830) - c.419G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038161526 | 141 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369254G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369254G>A Locations: - p.Ser141Leu (Ensembl:ENST00000492830) - c.422C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1287694420 | 142 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369251A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369251A>G Locations: - p.Val142Ala (Ensembl:ENST00000492830) - c.425T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038161356 | 143 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369249C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369249C>T Locations: - p.Glu143Lys (Ensembl:ENST00000492830) - c.427G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038161241 | 144 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000016.10:g.56369246T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369246T>C Locations: - p.Ile144Val (Ensembl:ENST00000492830) - c.430A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038161194 | 145 | T>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369242G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369242G>T Locations: - p.Thr145Lys (Ensembl:ENST00000492830) - c.434C>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs747763305 | 146 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56369240T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369240T>C Locations: - p.Thr146Ala (Ensembl:ENST00000492830) - c.436A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs780460697 | 150 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369228A>T Codon: TTA/ATA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369228A>T Locations: - p.Leu150Ile (Ensembl:ENST00000492830) - c.448T>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs750744117 | 153 | R>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369218C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369218C>G Locations: - p.Arg153Pro (Ensembl:ENST00000492830) - c.458G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51924688 rs750744117 | 153 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00001592 (gnomAD) Accession: NC_000016.10:g.56369218C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369218C>T Locations: - p.R153Q (NCI-TCGA:ENST00000492830) - p.Arg153Gln (Ensembl:ENST00000492830) - c.458G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1194982463 | 153 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369219G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369219G>A Locations: - p.Arg153Trp (Ensembl:ENST00000492830) - c.457C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038160702 | 154 | I>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56369215A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369215A>C Locations: - p.Ile154Ser (Ensembl:ENST00000492830) - c.461T>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038160750 | 154 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.56369216T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369216T>C Locations: - p.Ile154Val (Ensembl:ENST00000492830) - c.460A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038160591 | 156 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.242) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.56369209A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369209A>G Locations: - p.Val156Ala (Ensembl:ENST00000492830) - c.467T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1439133146 | 158 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.684) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.56369203A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369203A>G Locations: - p.Phe158Ser (Ensembl:ENST00000492830) - c.473T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1276953002 | 159 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56369201G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369201G>A Locations: - p.Pro159Ser (Ensembl:ENST00000492830) - c.475C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1238567489 | 161 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.56369193C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369193C>G Locations: - p.Gln161His (Ensembl:ENST00000492830) - c.483G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs751616370 | 161 | Q>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.56369194T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369194T>A Locations: - p.Gln161Leu (Ensembl:ENST00000492830) - c.482A>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs751616370 | 161 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56369194T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56369194T>C Locations: - p.Gln161Arg (Ensembl:ENST00000492830) - c.482A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs768734279 | 162 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000016.10:g.56367526C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367526C>A Locations: - p.Arg162Leu (Ensembl:ENST00000492830) - c.485G>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs768734279 | 162 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000016.10:g.56367526C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367526C>T Locations: - p.Arg162Gln (Ensembl:ENST00000492830) - c.485G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs202074356 | 162 | R>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56367527G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367527G>A Locations: - p.Arg162Trp (Ensembl:ENST00000492830) - c.484C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
COSV51924300 rs1596894284 | 166 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.54) Somatic: Yes Accession: NC_000016.10:g.56367515T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367515T>C Locations: - p.I166V (NCI-TCGA:ENST00000492830) - p.Ile166Val (Ensembl:ENST00000492830) - c.496A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs773117196 | 174 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000016.10:g.56367490A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367490A>G Locations: - p.Val174Ala (Ensembl:ENST00000492830) - c.521T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs771935701 | 176 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.56367484C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367484C>T Locations: - p.Arg176Lys (Ensembl:ENST00000492830) - c.527G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1236765937 | 177 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.56367481G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367481G>A Locations: - p.Pro177Leu (Ensembl:ENST00000492830) - c.530C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51920505 rs1207778284 | 177 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000016.10:g.56367482G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367482G>A Locations: - p.P177S (NCI-TCGA:ENST00000492830) - p.Pro177Ser (Ensembl:ENST00000492830) - c.529C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs761320091 | 178 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.56367479T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367479T>C Locations: - p.Ser178Gly (Ensembl:ENST00000492830) - c.532A>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs2038134783 | 178 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000016.10:g.56367478C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367478C>T Locations: - p.Ser178Asn (Ensembl:ENST00000492830) - c.533G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1440237184 | 178 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.56367477G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367477G>C Locations: - p.Ser178Arg (Ensembl:ENST00000492830) - c.534C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038134673 | 179 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.56367475C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367475C>T Locations: - p.Ser179Asn (Ensembl:ENST00000492830) - c.536G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs773814282 | 180 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.56367472T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367472T>C Locations: - p.Asp180Gly (Ensembl:ENST00000492830) - c.539A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1337139753 | 180 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.56367473C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367473C>T Locations: - p.Asp180Asn (Ensembl:ENST00000492830) - c.538G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1337139753 | 180 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.637) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56367473C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367473C>A Locations: - p.Asp180Tyr (Ensembl:ENST00000492830) - c.538G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1567505455 | 183 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.56367464C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367464C>A Locations: - p.Glu183Ter (Ensembl:ENST00000492830) - c.547G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038134352 | 183 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.283) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000016.10:g.56367463T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367463T>C Locations: - p.Glu183Gly (Ensembl:ENST00000492830) - c.548A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1567505455 | 183 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.283) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000016.10:g.56367464C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367464C>T Locations: - p.Glu183Lys (Ensembl:ENST00000492830) - c.547G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1360983546 | 184 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.264) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.56367460C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367460C>A Locations: - p.Gly184Val (Ensembl:ENST00000492830) - c.551G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1455589662 | 186 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000016.10:g.56367455T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367455T>C Locations: - p.Thr186Ala (Ensembl:ENST00000492830) - c.556A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1236612124 | 187 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56367451G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56367451G>C Locations: - p.Ser187Cys (Ensembl:ENST00000492830) - c.560C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs546529393 | 190 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000016.10:g.56364105T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364105T>C Locations: - p.Thr190Ala (Ensembl:ENST00000492830) - c.568A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs760529496 | 190 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000016.10:g.56364104G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364104G>A Locations: - p.Thr190Ile (Ensembl:ENST00000492830) - c.569C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs760529496 | 190 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.323) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.56364104G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364104G>T Locations: - p.Thr190Asn (Ensembl:ENST00000492830) - c.569C>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs761694034 | 191 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.56364102C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364102C>T Locations: - p.Glu191Lys (Ensembl:ENST00000492830) - c.571G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs761694034 | 191 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.713) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.56364102C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364102C>G Locations: - p.Glu191Gln (Ensembl:ENST00000492830) - c.571G>C (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs201184108 | 192 | R>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.56364099G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364099G>A Locations: - p.Arg192Cys (Ensembl:ENST00000492830) - c.574C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs144358339 | 192 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.56364098C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364098C>T Locations: - p.Arg192His (Ensembl:ENST00000492830) - c.575G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs775195940 | 196 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000016.10:g.56364086T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364086T>C Locations: - p.Asp196Gly (Ensembl:ENST00000492830) - c.587A>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs2143729785 | 197 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000016.10:g.56364084G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364084G>C Locations: - p.Leu197Val (Ensembl:ENST00000492830) - c.589C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038073537 | 199 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000016.10:g.56364078G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364078G>A Locations: - p.Pro199Ser (Ensembl:ENST00000492830) - c.595C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs769274825 | 200 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.56364075G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364075G>A Locations: - p.Arg200Cys (Ensembl:ENST00000492830) - c.598C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs370746686 | 200 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.56364074C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364074C>T Locations: - p.Arg200His (Ensembl:ENST00000492830) - c.599G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1195500870 | 202 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000016.10:g.56364067C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364067C>A Locations: - p.Glu202Asp (Ensembl:ENST00000492830) - c.606G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038073122 | 202 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000016.10:g.56364069C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364069C>G Locations: - p.Glu202Gln (Ensembl:ENST00000492830) - c.604G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs373344016 | 204 | T>M | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000016.10:g.56364062G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364062G>A Locations: - p.Thr204Met (Ensembl:ENST00000492830) - c.611C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs748633685 | 206 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000016.10:g.56364056T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364056T>C Locations: - p.Asp206Gly (Ensembl:ENST00000492830) - c.617A>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs748633685 | 206 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.56364056T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364056T>A Locations: - p.Asp206Val (Ensembl:ENST00000492830) - c.617A>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs778922910 | 207 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000016.10:g.56364052G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364052G>T Locations: - p.Phe207Leu (Ensembl:ENST00000492830) - c.621C>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs755068171 | 208 | G>S | Likely benign (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000016.10:g.56364051C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364051C>T Locations: - p.Gly208Ser (Ensembl:ENST00000492830) - c.622G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs149614022 | 209 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.56364048C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364048C>T Locations: - p.Glu209Lys (Ensembl:ENST00000492830) - c.625G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1596890700 | 210 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000016.10:g.56364044A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364044A>C Locations: - p.Val210Gly (Ensembl:ENST00000492830) - c.629T>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs138247111 | 212 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000016.10:g.56364039C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364039C>A Locations: - p.Val212Leu (Ensembl:ENST00000492830) - c.634G>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs138247111 | 212 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.56364039C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364039C>T Locations: - p.Val212Met (Ensembl:ENST00000492830) - c.634G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs2038071744 | 214 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.56364032G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364032G>A Locations: - p.Pro214Leu (Ensembl:ENST00000492830) - c.641C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs750243649 | 214 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.56364033G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364033G>T Locations: - p.Pro214Thr (Ensembl:ENST00000492830) - c.640C>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs761172267 | 217 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000016.10:g.56364023A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364023A>C Locations: - p.Val217Gly (Ensembl:ENST00000492830) - c.650T>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs767281747 | 218 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.56364021C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364021C>T Locations: - p.Glu218Lys (Ensembl:ENST00000492830) - c.652G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs751494058 | 220 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.56364013G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364013G>T Locations: - p.Phe220Leu (Ensembl:ENST00000492830) - c.660C>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs763570636 | 221 | E>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.56364012C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364012C>A Locations: - p.Glu221Ter (Ensembl:ENST00000492830) - c.661G>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs762540065 | 221 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.56364010C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364010C>G Locations: - p.Glu221Asp (Ensembl:ENST00000492830) - c.663G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs763570636 | 221 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56364012C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364012C>T Locations: - p.Glu221Lys (Ensembl:ENST00000492830) - c.661G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1223587728 | 221 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56364011T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364011T>A Locations: - p.Glu221Val (Ensembl:ENST00000492830) - c.662A>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1378560642 | 222 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.56364009C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364009C>G Locations: - p.Ala222Pro (Ensembl:ENST00000492830) - c.664G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038070923 | 223 | R>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56364006G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364006G>A Locations: - p.Arg223Cys (Ensembl:ENST00000492830) - c.667C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51922655 rs764962608 | 223 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.0000199 (gnomAD) Accession: NC_000016.10:g.56364005C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364005C>T Locations: - p.R223H (NCI-TCGA:ENST00000492830) - p.Arg223His (Ensembl:ENST00000492830) - c.668G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs764962608 | 223 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000016.10:g.56364005C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56364005C>A Locations: - p.Arg223Leu (Ensembl:ENST00000492830) - c.668G>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1213114768 | 225 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.56363999C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363999C>T Locations: - p.Ser225Asn (Ensembl:ENST00000492830) - c.674G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV99315815 rs1419932705 | 226 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000007959 (gnomAD) Accession: NC_000016.10:g.56363997G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363997G>A Locations: - p.R226C (NCI-TCGA:ENST00000492830) - p.Arg226Cys (Ensembl:ENST00000492830) - c.676C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs995498781 | 226 | R>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56363996C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363996C>T Locations: - p.Arg226His (Ensembl:ENST00000492830) - c.677G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1180317441 | 228 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56363991A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363991A>C Locations: - p.Ser228Ala (Ensembl:ENST00000492830) - c.682T>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038070315 | 228 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.56363990G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363990G>C Locations: - p.Ser228Cys (Ensembl:ENST00000492830) - c.683C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1436681806 | 229 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.56363987T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363987T>C Locations: - p.Lys229Arg (Ensembl:ENST00000492830) - c.686A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs898495076 | 230 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56363984G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363984G>A Locations: - p.Ser230Phe (Ensembl:ENST00000492830) - c.689C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs772556860 | 232 | D>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.56363978T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363978T>G Locations: - p.Asp232Ala (Ensembl:ENST00000492830) - c.695A>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038069971 | 233 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56363976C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363976C>T Locations: - p.Glu233Lys (Ensembl:ENST00000492830) - c.697G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1378595205 | 234 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56363972C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363972C>T Locations: - p.Arg234Lys (Ensembl:ENST00000492830) - c.701G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1211581817 | 235 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000016.10:g.56363970G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363970G>C Locations: - p.Gln235Glu (Ensembl:ENST00000492830) - c.703C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1349895448 | 236 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56363967G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363967G>A Locations: - p.Arg236Cys (Ensembl:ENST00000492830) - c.706C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1349895448 | 236 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56363967G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363967G>C Locations: - p.Arg236Gly (Ensembl:ENST00000492830) - c.706C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51921608 rs1258439560 | 236 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.56363966C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363966C>T Locations: - p.R236H (NCI-TCGA:ENST00000492830) - p.Arg236His (Ensembl:ENST00000492830) - c.707G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1258439560 | 236 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.56363966C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363966C>A Locations: - p.Arg236Leu (Ensembl:ENST00000492830) - c.707G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs748719351 | 237 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56363964T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363964T>C Locations: - p.Met237Val (Ensembl:ENST00000492830) - c.709A>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1335808336 | 238 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56363960A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363960A>G Locations: - p.Leu238Pro (Ensembl:ENST00000492830) - c.713T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038069171 | 239 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000016.10:g.56363957A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363957A>G Locations: - p.Val239Ala (Ensembl:ENST00000492830) - c.716T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038069251 | 239 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000016.10:g.56363958C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363958C>A Locations: - p.Val239Leu (Ensembl:ENST00000492830) - c.715G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038069251 | 239 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.56363958C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363958C>T Locations: - p.Val239Met (Ensembl:ENST00000492830) - c.715G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038068971 | 240 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000016.10:g.56363954T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363954T>C Locations: - p.Gln240Arg (Ensembl:ENST00000492830) - c.719A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1308746346 | 241 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003982 (gnomAD) Accession: NC_000016.10:g.56363952G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363952G>A Locations: - p.R241C (NCI-TCGA:ENST00000492830) - p.Arg241Cys (Ensembl:ENST00000492830) - c.721C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1412533092 | 241 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56363951C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363951C>T Locations: - p.Arg241His (Ensembl:ENST00000492830) - c.722G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1355284089 | 242 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56363947C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363947C>G Locations: - p.Lys242Asn (Ensembl:ENST00000492830) - c.726G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs76955156 | 243 | D>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.56363944G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363944G>C Locations: - p.Asp243Glu (Ensembl:ENST00000492830) - c.729C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs779952471 | 244 | E>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.56363943C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363943C>A Locations: - p.Glu244Ter (Ensembl:ENST00000492830) - c.730G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51922629 rs779952471 | 244 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.00000399 (gnomAD) Accession: NC_000016.10:g.56363943C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363943C>T Locations: - p.E244K (NCI-TCGA:ENST00000492830) - p.Glu244Lys (Ensembl:ENST00000492830) - c.730G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV99315814 rs1383383176 | 246 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000003996 (gnomAD) Accession: NC_000016.10:g.56363937G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363937G>A Locations: - p.L246F (NCI-TCGA:ENST00000492830) - p.Leu246Phe (Ensembl:ENST00000492830) - c.736C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs369160515 | 247 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | ESP ExAC dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000003998 (gnomAD) Accession: NC_000016.10:g.56363934G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363934G>A Locations: - p.Q247* (NCI-TCGA:ENST00000492830) - p.Gln247Ter (Ensembl:ENST00000492830) - c.739C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1007403856 | 247 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56363932C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363932C>A Locations: - p.Gln247His (Ensembl:ENST00000492830) - c.741G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1348637316 | 248 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000016.10:g.56363930T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363930T>C Locations: - p.Gln248Arg (Ensembl:ENST00000492830) - c.743A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51923716 rs746062824 | 250 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00001206 (gnomAD) Accession: NC_000016.10:g.56363925G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363925G>A Locations: - p.R250C (NCI-TCGA:ENST00000492830) - p.Arg250Cys (Ensembl:ENST00000492830) - c.748C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs781032837 | 250 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56363924C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363924C>T Locations: - p.Arg250His (Ensembl:ENST00000492830) - c.749G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs781032837 | 250 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56363924C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363924C>A Locations: - p.Arg250Leu (Ensembl:ENST00000492830) - c.749G>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
CA351522 COSV51920574 RCV000207121 rs869025244 rs869025244,COSV51920574 | 252 | R>C | Breast ductal adenocarcinoma (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.579) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.56363055G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363055G>A Locations: - p.R252C (NCI-TCGA:ENST00000492830) - p.Arg252Cys (Ensembl:ENST00000492830) - c.754C>T (Ensembl:ENST00000492830) Disease association: - Breast ductal adenocarcinoma Source type: large scale study | |||||||
rs763349779 | 252 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56363054C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363054C>T Locations: - p.Arg252His (Ensembl:ENST00000492830) - c.755G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1308611658 | 254 | L>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56363048A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363048A>G Locations: - p.Leu254Ser (Ensembl:ENST00000492830) - c.761T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs775682761 | 255 | N>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.795) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.56363046T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363046T>A Locations: - p.Asn255Tyr (Ensembl:ENST00000492830) - c.763A>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1567502820 | 256 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000016.10:g.56363042T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363042T>C Locations: - p.Lys256Arg (Ensembl:ENST00000492830) - c.767A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs141822024 | 257 | S>T | ESP ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000016.10:g.56363039C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363039C>G Locations: - p.Ser257Thr (Ensembl:ENST00000492830) - c.770G>C (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs371195118 | 258 | S>C | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56363036G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363036G>C Locations: - p.Ser258Cys (Ensembl:ENST00000492830) - c.773C>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs371195118 | 258 | S>F | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56363036G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363036G>A Locations: - p.Ser258Phe (Ensembl:ENST00000492830) - c.773C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs771076863 | 261 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000016.10:g.56363026A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363026A>C Locations: - p.Asp261Glu (Ensembl:ENST00000492830) - c.783T>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs371217450 | 262 | A>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.56363024G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363024G>T Locations: - p.Ala262Glu (Ensembl:ENST00000492830) - c.785C>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs371217450 | 262 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000016.10:g.56363024G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363024G>A Locations: - p.Ala262Val (Ensembl:ENST00000492830) - c.785C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs777406344 | 263 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.635) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000016.10:g.56363022C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363022C>T Locations: - p.Ala263Thr (Ensembl:ENST00000492830) - c.787G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1228811447 | 264 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.56363018G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363018G>A Locations: - p.Ser264Leu (Ensembl:ENST00000492830) - c.791C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1804880 | 266 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000016.10:g.56363011G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363011G>T Locations: - p.Ser266Arg (Ensembl:ENST00000492830) - c.798C>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038055127 | 268 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.56363006A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363006A>G Locations: - p.Leu268Pro (Ensembl:ENST00000492830) - c.803T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs754545318 | 269 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56363003G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363003G>T Locations: - p.Pro269His (Ensembl:ENST00000492830) - c.806C>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs754545318 | 269 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.56363003G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363003G>C Locations: - p.Pro269Arg (Ensembl:ENST00000492830) - c.806C>G (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs766159022 | 270 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.56363000G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363000G>A Locations: - p.Ser270Leu (Ensembl:ENST00000492830) - c.809C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1408414612 | 271 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.277) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.56362997T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362997T>C Locations: - p.Glu271Gly (Ensembl:ENST00000492830) - c.812A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs760199296 | 272 | G>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56362995C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362995C>A Locations: - p.Gly272Cys (Ensembl:ENST00000492830) - c.814G>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs138682084 | 273 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000016.10:g.56362991G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362991G>A Locations: - p.Ala273Val (Ensembl:ENST00000492830) - c.818C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs558619605 | 274 | S>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000016.10:g.56362989A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362989A>C Locations: - p.Ser274Ala (Ensembl:ENST00000492830) - c.820T>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs558619605 | 274 | S>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000016.10:g.56362989A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362989A>G Locations: - p.Ser274Pro (Ensembl:ENST00000492830) - c.820T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs775848543 | 275 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.56362985G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362985G>A Locations: - p.Ser275Phe (Ensembl:ENST00000492830) - c.824C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1596889446 | 276 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56362982T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362982T>G Locations: - p.Asp276Ala (Ensembl:ENST00000492830) - c.827A>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51919894 rs1253081413 rs1253081413,COSV51919894 | 278 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: tolerated (0.16) Somatic: No Population frequencies: - MAF: 0.000007973 (gnomAD) Accession: NC_000016.10:g.56362977C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362977C>T Locations: - p.V278M (NCI-TCGA:ENST00000492830) - p.Val278Met (Ensembl:ENST00000492830) - c.832G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs2038054219 | 280 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.56362970A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362970A>G Locations: - p.Leu280Pro (Ensembl:ENST00000492830) - c.839T>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1223395210 | 281 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.56362968G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362968G>A Locations: - p.Arg281Cys (Ensembl:ENST00000492830) - c.841C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs759617526 | 281 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56362967C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362967C>T Locations: - p.Arg281His (Ensembl:ENST00000492830) - c.842G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51921073 rs776654452 | 282 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000007972 (gnomAD) Accession: NC_000016.10:g.56362965G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362965G>A Locations: - p.R282* (NCI-TCGA:ENST00000492830) - p.Arg282Ter (Ensembl:ENST00000492830) - c.844C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs200320761 | 282 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56362964C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362964C>T Locations: - p.Arg282Gln (Ensembl:ENST00000492830) - c.845G>A (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs1342118061 | 283 | R>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56362961C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362961C>A Locations: - p.Arg283Met (Ensembl:ENST00000492830) - c.848G>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1278861908 | 284 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.56362957C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362957C>T Locations: - p.Met284Ile (Ensembl:ENST00000492830) - c.852G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1234194548 | 286 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56362953C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362953C>T Locations: - p.Ala286Thr (Ensembl:ENST00000492830) - c.856G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs747167232 | 286 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.56362952G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362952G>A Locations: - p.Ala286Val (Ensembl:ENST00000492830) - c.857C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
COSV51923847 rs2038053688 | 287 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.56362949G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362949G>A Locations: - p.A287V (NCI-TCGA:ENST00000492830) - p.Ala287Val (Ensembl:ENST00000492830) - c.860C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs941073221 | 288 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56362947C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362947C>T Locations: - p.Ala288Thr (Ensembl:ENST00000492830) - c.862G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1288021595 | 289 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.56362944C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362944C>T Locations: - p.Ala289Thr (Ensembl:ENST00000492830) - c.865G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs771750137 | 289 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.56362943G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362943G>A Locations: - p.Ala289Val (Ensembl:ENST00000492830) - c.866C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
COSV51923585 rs754922563 | 291 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001999 (gnomAD) Accession: NC_000016.10:g.56362937C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362937C>T Locations: - p.R291Q (NCI-TCGA:ENST00000492830) - p.Arg291Gln (Ensembl:ENST00000492830) - c.872G>A (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs145747194 | 291 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56362938G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362938G>A Locations: - p.Arg291Trp (Ensembl:ENST00000492830) - c.871C>T (Ensembl:ENST00000492830) Source type: large scale study | |||||||
rs2038053117 | 292 | R>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.56362934C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362934C>G Locations: - p.Arg292Thr (Ensembl:ENST00000492830) - c.875G>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs1487627493 | 293 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.56362932G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362932G>C Locations: - p.Leu293Val (Ensembl:ENST00000492830) - c.877C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs753418518 | 294 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.744) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.56362928T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362928T>C Locations: - p.Gln294Arg (Ensembl:ENST00000492830) - c.881A>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs762776771 | 295 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.56362925T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362925T>G Locations: - p.Lys295Thr (Ensembl:ENST00000492830) - c.884A>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
COSV51923572 rs1232716103 | 296 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.56362923G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362923G>A Locations: - p.Q296* (NCI-TCGA:ENST00000492830) - p.Gln296Ter (Ensembl:ENST00000492830) - c.886C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs750043281 | 297 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.56362920G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362920G>C Locations: - p.Gln297Glu (Ensembl:ENST00000492830) - c.889C>G (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs764581795 | 298 | T>P | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000016.10:g.56362917T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362917T>G Locations: - p.Thr298Pro (Ensembl:ENST00000492830) - c.892A>C (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
rs199784409 | 299 | S>F | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.56362913G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56362913G>A Locations: - p.Ser299Phe (Ensembl:ENST00000492830) - c.896C>T (Ensembl:ENST00000492830) Source type: large scale study Cross-references: | |||||||
VAR_035790 rs373191257 | 605 | D>V | a breast cancer sample; somatic mutation (UniProt) | Variant of uncertain significance (UniProt) | UniProt ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000016.10:g.56363027T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 16q13 Genomic location: NC_000016.10:g.56363027T>A Locations: - p.Asp605Val (UniProt:Q9UKV5) - p.Asp261Val (Ensembl:ENST00000492830) - c.782A>T (Ensembl:ENST00000492830) Source type: mixed Cross-references: |