Q5T686 · AVPI1_HUMAN
- ProteinArginine vasopressin-induced protein 1
- GeneAVPI1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids147 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs779030123 | 2 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679901C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679901C>T Locations: - p.Gly2Asp (Ensembl:ENST00000370626) - c.5G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1251965300 | 3 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679898G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679898G>A Locations: - p.Thr3Ile (Ensembl:ENST00000370626) - c.8C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1251965300 | 3 | T>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679898G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679898G>T Locations: - p.Thr3Asn (Ensembl:ENST00000370626) - c.8C>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1589943255 | 3 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679899T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679899T>G Locations: - p.Thr3Pro (Ensembl:ENST00000370626) - c.7A>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1589943247 | 5 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679893C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679893C>T Locations: - p.Ala5Thr (Ensembl:ENST00000370626) - c.13G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs757387837 | 6 | S>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679889G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679889G>A Locations: - p.Ser6Leu (Ensembl:ENST00000370626) - c.17C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1215304556 | 7 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679887C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679887C>T Locations: - p.Val7Met (Ensembl:ENST00000370626) - c.19G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1260355195 | 8 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000010.11:g.97679884C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679884C>T Locations: - p.Val8Ile (Ensembl:ENST00000370626) - c.22G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs756361350 | 9 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.97679880C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679880C>T Locations: - p.Ser9Asn (Ensembl:ENST00000370626) - c.26G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1440847446 | 10 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679877T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679877T>C Locations: - p.Glu10Gly (Ensembl:ENST00000370626) - c.29A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1307740805 | 10 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679878C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679878C>T Locations: - p.Glu10Lys (Ensembl:ENST00000370626) - c.28G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041695043 | 11 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000010.11:g.97679874G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679874G>C Locations: - p.Pro11Arg (Ensembl:ENST00000370626) - c.32C>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1564780465 | 11 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000010.11:g.97679875G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679875G>A Locations: - p.Pro11Ser (Ensembl:ENST00000370626) - c.31C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs752945501 | 12 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000010.11:g.97679871G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679871G>A Locations: - p.Pro12Leu (Ensembl:ENST00000370626) - c.35C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
COSV101033271 rs1391074095 rs1391074095,COSV101033271 | 13 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.22) - PolyPhen: benign (0.003) - SIFT: tolerated (0.27) Somatic: No Population frequencies: - MAF: 0.000004604 (gnomAD) Accession: NC_000010.11:g.97679868G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679868G>A Locations: - p.P13L (NCI-TCGA:ENST00000370626) - p.Pro13Leu (Ensembl:ENST00000370626) - c.38C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs767909083 | 13 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000010.11:g.97679869G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679869G>A Locations: - p.Pro13Ser (Ensembl:ENST00000370626) - c.37C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs767909083 | 13 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000010.11:g.97679869G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679869G>T Locations: - p.Pro13Thr (Ensembl:ENST00000370626) - c.37C>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1157638574 | 14 | W>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000010.11:g.97679865C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679865C>A Locations: - p.Trp14Leu (Ensembl:ENST00000370626) - c.41G>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041694925 | 14 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.658) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000010.11:g.97679866A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679866A>G Locations: - p.Trp14Arg (Ensembl:ENST00000370626) - c.40T>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs755377000 | 15 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97679863G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679863G>A Locations: - p.Gln15Ter (Ensembl:ENST00000370626) - c.43C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041694864 | 15 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000010.11:g.97679862T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679862T>C Locations: - p.Gln15Arg (Ensembl:ENST00000370626) - c.44A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1365056678 | 16 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000010.11:g.97679860C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679860C>T Locations: - p.Ala16Thr (Ensembl:ENST00000370626) - c.46G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1158704308 | 16 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000010.11:g.97679859G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679859G>A Locations: - p.Ala16Val (Ensembl:ENST00000370626) - c.47C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs199613945 | 17 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679856G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679856G>A Locations: - p.Pro17Leu (Ensembl:ENST00000370626) - c.50C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1251062574 | 17 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000010.11:g.97679857G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679857G>T Locations: - p.Pro17Thr (Ensembl:ENST00000370626) - c.49C>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs761274846 | 18 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000010.11:g.97679854T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679854T>G Locations: - p.Ile18Leu (Ensembl:ENST00000370626) - c.52A>C (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs776212269 | 18 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000010.11:g.97679853A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679853A>G Locations: - p.Ile18Thr (Ensembl:ENST00000370626) - c.53T>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs763598234 | 19 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000010.11:g.97679851C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679851C>T Locations: - p.Glu19Lys (Ensembl:ENST00000370626) - c.55G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs548981486 | 21 | R>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.97679844C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679844C>G Locations: - p.Arg21Pro (Ensembl:ENST00000370626) - c.62G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs548981486 | 21 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.97679844C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679844C>T Locations: - p.Arg21Gln (Ensembl:ENST00000370626) - c.62G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs573308853 | 21 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000004304 (gnomAD) Accession: NC_000010.11:g.97679845G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679845G>A Locations: - p.R21W (NCI-TCGA:ENST00000370626) - p.Arg21Trp (Ensembl:ENST00000370626) - c.61C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs201631649 | 22 | G>A | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000010.11:g.97679841C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679841C>G Locations: - p.Gly22Ala (Ensembl:ENST00000370626) - c.65G>C (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs201631649 | 22 | G>D | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.634) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.97679841C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679841C>T Locations: - p.Gly22Asp (Ensembl:ENST00000370626) - c.65G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs142122028 | 22 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000010.11:g.97679842C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679842C>T Locations: - p.Gly22Ser (Ensembl:ENST00000370626) - c.64G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs201631649 | 22 | G>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.97679841C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679841C>A Locations: - p.Gly22Val (Ensembl:ENST00000370626) - c.65G>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs762244978 | 23 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679839G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679839G>A Locations: - p.Arg23Cys (Ensembl:ENST00000370626) - c.67C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs530388580 | 23 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679838C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679838C>T Locations: - p.Arg23His (Ensembl:ENST00000370626) - c.68G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs530388580 | 23 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679838C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679838C>A Locations: - p.Arg23Leu (Ensembl:ENST00000370626) - c.68G>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1350299895 | 24 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679834C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679834C>G Locations: - p.Lys24Asn (Ensembl:ENST00000370626) - c.72G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041694323 | 25 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.97679833G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679833G>C Locations: - p.Gln25Glu (Ensembl:ENST00000370626) - c.73C>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs774379267 | 25 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000010.11:g.97679832T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679832T>C Locations: - p.Gln25Arg (Ensembl:ENST00000370626) - c.74A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs771021228 | 26 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679829G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679829G>T Locations: - p.Ala26Asp (Ensembl:ENST00000370626) - c.77C>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs771021228 | 26 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679829G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679829G>C Locations: - p.Ala26Gly (Ensembl:ENST00000370626) - c.77C>G (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs112461058 | 27 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679826G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679826G>A Locations: - p.Ser27Leu (Ensembl:ENST00000370626) - c.80C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs112461058 | 27 | S>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679826G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679826G>C Locations: - p.Ser27Trp (Ensembl:ENST00000370626) - c.80C>G (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1478290417 | 29 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679820T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679820T>C Locations: - p.Asn29Ser (Ensembl:ENST00000370626) - c.86A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1003534406 | 30 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679818T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679818T>A Locations: - p.Ile30Phe (Ensembl:ENST00000370626) - c.88A>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1003534406 | 30 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679818T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679818T>G Locations: - p.Ile30Leu (Ensembl:ENST00000370626) - c.88A>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1003534406 | 30 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679818T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679818T>C Locations: - p.Ile30Val (Ensembl:ENST00000370626) - c.88A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs950983156 | 31 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679815A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679815A>G Locations: - p.Phe31Leu (Ensembl:ENST00000370626) - c.91T>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041694052 | 32 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679811T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679811T>C Locations: - p.Gln32Arg (Ensembl:ENST00000370626) - c.95A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041694030 | 33 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000010.11:g.97679808T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679808T>C Locations: - p.Asp33Gly (Ensembl:ENST00000370626) - c.98A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1022853537 | 34 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679805G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679805G>T Locations: - p.Ala34Asp (Ensembl:ENST00000370626) - c.101C>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs544820695 | 34 | A>P | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.725) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.97679806C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679806C>G Locations: - p.Ala34Pro (Ensembl:ENST00000370626) - c.100G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
COSV65697467 rs544820695 | 34 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.12) - PolyPhen: benign (0.017) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000010.11:g.97679806C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679806C>T Locations: - p.A34T (NCI-TCGA:ENST00000370626) - p.Ala34Thr (Ensembl:ENST00000370626) - c.100G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs150249445 | 35 | E>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97679803C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679803C>A Locations: - p.Glu35Ter (Ensembl:ENST00000370626) - c.103G>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs150249445 | 35 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.242) - SIFT: tolerated (0.2) - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.15) Somatic: No Population frequencies: - MAF: 0.00003622 (gnomAD) Accession: NC_000010.11:g.97679803C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679803C>T Locations: - p.E35K (NCI-TCGA:ENST00000370626) - p.Glu35Lys (Ensembl:ENST00000370626) - c.103G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs11556392 | 36 | L>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679799A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679799A>T Locations: - p.Leu36Gln (Ensembl:ENST00000370626) - c.107T>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs11556392 | 36 | L>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679799A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679799A>C Locations: - p.Leu36Arg (Ensembl:ENST00000370626) - c.107T>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs758922327 | 38 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679794G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679794G>C Locations: - p.Gln38Glu (Ensembl:ENST00000370626) - c.112C>G (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs775688177 | 38 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679792C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679792C>A Locations: - p.Gln38His (Ensembl:ENST00000370626) - c.114G>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs750953235 | 39 | I>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679791T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679791T>A Locations: - p.Ile39Phe (Ensembl:ENST00000370626) - c.115A>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs2135770360 | 39 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679790A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679790A>C Locations: - p.Ile39Ser (Ensembl:ENST00000370626) - c.116T>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs763659747 | 40 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97679788G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679788G>A Locations: - p.Gln40Ter (Ensembl:ENST00000370626) - c.118C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1278451948 | 40 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000010.11:g.97679787T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679787T>C Locations: - p.Gln40Arg (Ensembl:ENST00000370626) - c.119A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
VAR_031405 rs2275047 | 41 | A>G | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000010.11:g.97679784G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679784G>C Locations: - p.Ala41Gly (UniProt:Q5T686) Source type: mixed Cross-references: | |||||||
rs760146506 | 41 | A>P | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.288) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000010.11:g.97679785C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679785C>G Locations: - p.Ala41Pro (Ensembl:ENST00000370626) - c.121G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2275047 | 41 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000010.11:g.97679784G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679784G>A Locations: - p.Ala41Val (Ensembl:ENST00000370626) - c.122C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
COSV101033343 | 42 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.97679782G>C Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679782G>C Locations: - c.124C>G (NCI-TCGA:ENST00000370626) - p.L42V (NCI-TCGA:ENST00000370626) Source type: large scale study Cross-references: | |||||||
TCGA novel rs573222742 | 43 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679779A>G, NC_000010.11:g.97679777A>C Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679779A>G, NC_000010.11:g.97679777A>C Locations: - c.127T>C (NCI-TCGA:ENST00000370626) - p.F43L (NCI-TCGA:ENST00000370626) - p.Phe43Leu (Ensembl:ENST00000370626) - c.129T>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV65697422 rs770933514 | 45 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0.04) - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000003992 (gnomAD) Accession: NC_000010.11:g.97679773G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679773G>A Locations: - p.R45C (NCI-TCGA:ENST00000370626) - p.Arg45Cys (Ensembl:ENST00000370626) - c.133C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs749235296 | 45 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: tolerated (0.17) - PolyPhen: benign (0.01) - SIFT: tolerated (0.15) Somatic: No Population frequencies: - MAF: 0.000007983 (gnomAD) Accession: NC_000010.11:g.97679772C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679772C>T Locations: - p.R45H (NCI-TCGA:ENST00000370626) - p.Arg45His (Ensembl:ENST00000370626) - c.134G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs770933514 | 45 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.286) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000010.11:g.97679773G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679773G>T Locations: - p.Arg45Ser (Ensembl:ENST00000370626) - c.133C>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041693448 | 47 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679766C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679766C>T Locations: - p.Gly47Glu (Ensembl:ENST00000370626) - c.140G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs773089599 | 47 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0000439 (gnomAD) Accession: NC_000010.11:g.97679767C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679767C>T Locations: - p.G47R (NCI-TCGA:ENST00000370626) - p.Gly47Arg (Ensembl:ENST00000370626) - c.139G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs748199701 | 48 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679762G>C, NC_000010.11:g.97679762G>T Codon: GAC/GAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679762G>C, NC_000010.11:g.97679762G>T Locations: - p.Asp48Glu (Ensembl:ENST00000370626) - c.144C>G (Ensembl:ENST00000370626) - c.144C>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1187503369 | 48 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679763T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679763T>C Locations: - p.Asp48Gly (Ensembl:ENST00000370626) - c.143A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1424000187 | 48 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679764C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679764C>G Locations: - p.Asp48His (Ensembl:ENST00000370626) - c.142G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs781436759 | 49 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97679761G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679761G>A Locations: - p.Gln49Ter (Ensembl:ENST00000370626) - c.145C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1188294225 | 49 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.97679760T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679760T>A Locations: - p.Gln49Leu (Ensembl:ENST00000370626) - c.146A>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1188294225 | 49 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000010.11:g.97679760T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679760T>C Locations: - p.Gln49Arg (Ensembl:ENST00000370626) - c.146A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041693263 | 51 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679755C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679755C>T Locations: - p.Ala51Thr (Ensembl:ENST00000370626) - c.151G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1319036069 | 52 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.97679751T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679751T>G Locations: - p.Glu52Ala (Ensembl:ENST00000370626) - c.155A>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1456069290 | 52 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000010.11:g.97679750C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679750C>G Locations: - p.Glu52Asp (Ensembl:ENST00000370626) - c.156G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1319036069 | 52 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679751T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679751T>C Locations: - p.Glu52Gly (Ensembl:ENST00000370626) - c.155A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs141588771 | 52 | E>K | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000010.11:g.97679752C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679752C>T Locations: - p.Glu52Lys (Ensembl:ENST00000370626) - c.154G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs933624779 | 53 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97679749C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679749C>A Locations: - p.Glu53Ter (Ensembl:ENST00000370626) - c.157G>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs920904350 | 53 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679747T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679747T>G Locations: - p.Glu53Asp (Ensembl:ENST00000370626) - c.159A>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs933624779 | 53 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679749C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679749C>G Locations: - p.Glu53Gln (Ensembl:ENST00000370626) - c.157G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
COSV65697300 | 54 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.97679746G>C Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679746G>C Locations: - c.160C>G (NCI-TCGA:ENST00000370626) - p.R54G (NCI-TCGA:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs554930916 | 54 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0.02) - PolyPhen: benign (0.033) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000010.11:g.97679745C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679745C>T Locations: - p.R54Q (NCI-TCGA:ENST00000370626) - p.Arg54Gln (Ensembl:ENST00000370626) - c.161G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs147898720 | 54 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.97679746G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679746G>A Locations: - p.Arg54Trp (Ensembl:ENST00000370626) - c.160C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs755597853 | 55 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679742G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679742G>C Locations: - p.Ala55Gly (Ensembl:ENST00000370626) - c.164C>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs779334148 | 55 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679743C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679743C>G Locations: - p.Ala55Pro (Ensembl:ENST00000370626) - c.163G>C (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs779334148 | 55 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679743C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679743C>T Locations: - p.Ala55Thr (Ensembl:ENST00000370626) - c.163G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1413569792 | 56 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679738C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679738C>G Locations: - p.Gln56His (Ensembl:ENST00000370626) - c.168G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1410702086 | 57 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.97679737T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679737T>C Locations: - p.Ile57Val (Ensembl:ENST00000370626) - c.169A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs752176784 | 58 | I>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.707) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679733A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679733A>T Locations: - p.Ile58Asn (Ensembl:ENST00000370626) - c.173T>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1039987419 | 59 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97679729C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679729C>T Locations: - p.Trp59Ter (Ensembl:ENST00000370626) - c.177G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs368833475 | 61 | C>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.364) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000010.11:g.97679725A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679725A>G Locations: - p.Cys61Arg (Ensembl:ENST00000370626) - c.181T>C (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs767208998 | 61 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000010.11:g.97679724C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679724C>T Locations: - p.Cys61Tyr (Ensembl:ENST00000370626) - c.182G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
TCGA novel | 62 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000010.11:g.97679721G>C Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679721G>C Locations: - c.185C>G (NCI-TCGA:ENST00000370626) - p.A62G (NCI-TCGA:ENST00000370626) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs374648853 | 62 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679722C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679722C>A Locations: - p.Ala62Ser (Ensembl:ENST00000370626) - c.184G>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
TCGA novel | 62 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679722C>T Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679722C>T Locations: - c.184G>A (NCI-TCGA:ENST00000370626) - p.A62T (NCI-TCGA:ENST00000370626) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1589943042 | 64 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679715T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679715T>G Locations: - p.Asp64Ala (Ensembl:ENST00000370626) - c.191A>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1589943042 | 64 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679715T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679715T>C Locations: - p.Asp64Gly (Ensembl:ENST00000370626) - c.191A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1163916825 | 66 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.97679710G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679710G>A Locations: - p.Arg66Cys (Ensembl:ENST00000370626) - c.196C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs765391611 | 66 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000010.11:g.97679709C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679709C>T Locations: - p.Arg66His (Ensembl:ENST00000370626) - c.197G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs765391611 TCGA novel | 66 | R>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | ExAC TOPMed gnomAD NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000010.11:g.97679709C>A, NC_000010.11:g.97679709del Codon: CGT/CTT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679709C>A, NC_000010.11:g.97679709del Locations: - p.Arg66Leu (Ensembl:ENST00000370626) - c.197G>T (Ensembl:ENST00000370626) - c.197del (NCI-TCGA:ENST00000370626) - p.R66Lfs*103 (NCI-TCGA:ENST00000370626) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1163916825 | 66 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000010.11:g.97679710G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679710G>T Locations: - p.Arg66Ser (Ensembl:ENST00000370626) - c.196C>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs762696141 | 68 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000010.11:g.97679704C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679704C>T Locations: - p.Ala68Thr (Ensembl:ENST00000370626) - c.202G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1564780265 | 69 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000010.11:g.97679699C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679699C>G Locations: - p.Glu69Asp (Ensembl:ENST00000370626) - c.207G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041692639 | 69 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.97679701C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679701C>T Locations: - p.Glu69Lys (Ensembl:ENST00000370626) - c.205G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs117859077 | 70 | A>D | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679697G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679697G>T Locations: - p.Ala70Asp (Ensembl:ENST00000370626) - c.209C>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs144748061 | 70 | A>T | ESP | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679698C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679698C>T Locations: - p.Ala70Thr (Ensembl:ENST00000370626) - c.208G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041692551 | 71 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679694A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679694A>G Locations: - p.Leu71Pro (Ensembl:ENST00000370626) - c.212T>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1355394728 | 72 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000010.11:g.97679692T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679692T>C Locations: - p.Lys72Glu (Ensembl:ENST00000370626) - c.214A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041692494 | 74 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679685A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679685A>G Locations: - p.Leu74Pro (Ensembl:ENST00000370626) - c.221T>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs201359925 | 75 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679683G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679683G>A Locations: - p.Arg75Cys (Ensembl:ENST00000370626) - c.223C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs201359925 | 75 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679683G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679683G>C Locations: - p.Arg75Gly (Ensembl:ENST00000370626) - c.223C>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs145546193 | 75 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000010.11:g.97679682C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679682C>T Locations: - p.Arg75His (Ensembl:ENST00000370626) - c.224G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs2041692402 | 78 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000010.11:g.97679673C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679673C>T Locations: - p.Arg78Lys (Ensembl:ENST00000370626) - c.233G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041692402 | 78 | R>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.721) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679673C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679673C>A Locations: - p.Arg78Met (Ensembl:ENST00000370626) - c.233G>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1197509830 | 79 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000010.11:g.97679671G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679671G>C Locations: - p.Pro79Ala (Ensembl:ENST00000370626) - c.235C>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1332314839 | 80 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.97679668G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679668G>C Locations: - p.Pro80Ala (Ensembl:ENST00000370626) - c.238C>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs747229970 | 81 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97679665T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679665T>C Locations: - p.Arg81Gly (Ensembl:ENST00000370626) - c.241A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1244261724 | 81 | R>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679664C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679664C>A Locations: - p.Arg81Met (Ensembl:ENST00000370626) - c.242G>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1444599804 | 82 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97679662G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679662G>A Locations: - p.Gln82Ter (Ensembl:ENST00000370626) - c.244C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1589942984 | 83 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.286) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.97679657T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679657T>G Locations: - p.Lys83Asn (Ensembl:ENST00000370626) - c.249A>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs780298953 | 84 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000010.11:g.97679655G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679655G>T Locations: - p.Pro84His (Ensembl:ENST00000370626) - c.251C>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs780298953 | 84 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000010.11:g.97679655G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679655G>A Locations: - p.Pro84Leu (Ensembl:ENST00000370626) - c.251C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1186081132 | 84 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.85) Somatic: No Accession: NC_000010.11:g.97679656G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679656G>A Locations: - p.Pro84Ser (Ensembl:ENST00000370626) - c.250C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs772464144 | 85 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000010.11:g.97679652A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679652A>G Locations: - p.Leu85Pro (Ensembl:ENST00000370626) - c.254T>C (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs772464144 | 85 | L>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000010.11:g.97679652A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679652A>T Locations: - p.Leu85Gln (Ensembl:ENST00000370626) - c.254T>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs772464144 | 85 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000010.11:g.97679652A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679652A>C Locations: - p.Leu85Arg (Ensembl:ENST00000370626) - c.254T>G (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1377511667 | 86 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000010.11:g.97679650C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679650C>T Locations: - p.Gly86Ser (Ensembl:ENST00000370626) - c.256G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs779432555 | 87 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.437) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000010.11:g.97679647G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679647G>A Locations: - p.His87Tyr (Ensembl:ENST00000370626) - c.259C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs2041692110 | 88 | S>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97679643G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679643G>T Locations: - p.Ser88Ter (Ensembl:ENST00000370626) - c.263C>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs943811758 | 91 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.344) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000010.11:g.97679634T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679634T>C Locations: - p.His91Arg (Ensembl:ENST00000370626) - c.272A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs202088278 | 92 | C>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.359) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000010.11:g.97679632A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679632A>C Locations: - p.Cys92Gly (Ensembl:ENST00000370626) - c.274T>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs202088278 | 92 | C>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000010.11:g.97679632A>T Codon: TGC/AGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679632A>T Locations: - p.Cys92Ser (Ensembl:ENST00000370626) - c.274T>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041692012 | 93 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.615) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.97679627G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679627G>T Locations: - p.Ser93Arg (Ensembl:ENST00000370626) - c.279C>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1404469892 | 93 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.97679628C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679628C>G Locations: - p.Ser93Thr (Ensembl:ENST00000370626) - c.278G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs745940011 | 94 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.404) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97679626G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679626G>A Locations: - p.Arg94Cys (Ensembl:ENST00000370626) - c.280C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs149721540 | 94 | R>H | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000010.11:g.97679625C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679625C>T Locations: - p.Arg94His (Ensembl:ENST00000370626) - c.281G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
COSV101033347 | 96 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000010.11:g.97679619C>A Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679619C>A Locations: - c.287G>T (NCI-TCGA:ENST00000370626) - p.R96I (NCI-TCGA:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs766152862 | 96 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000010.11:g.97679619C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679619C>T Locations: - p.Arg96Lys (Ensembl:ENST00000370626) - c.287G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs766152862 | 96 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000010.11:g.97679619C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97679619C>G Locations: - p.Arg96Thr (Ensembl:ENST00000370626) - c.287G>C (Ensembl:ENST00000370626) Source type: large scale study | |||||||
COSV101033265 rs775549165 | 99 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.682) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.0000603 (gnomAD) Accession: NC_000010.11:g.97678018C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678018C>G Locations: - p.E99Q (NCI-TCGA:ENST00000370626) - p.Glu99Gln (Ensembl:ENST00000370626) - c.295G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041675595 | 100 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000010.11:g.97678015G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678015G>A Locations: - p.Pro100Ser (Ensembl:ENST00000370626) - c.298C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs767718318 | 101 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000010.11:g.97678010G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678010G>T Locations: - p.His101Gln (Ensembl:ENST00000370626) - c.303C>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1281413922 | 102 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000010.11:g.97678009A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678009A>C Locations: - p.Ser102Ala (Ensembl:ENST00000370626) - c.304T>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs553651349 | 102 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.97678008G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678008G>C Locations: - p.Ser102Cys (Ensembl:ENST00000370626) - c.305C>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
COSV65698041 rs553651349 | 102 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.03) - PolyPhen: benign (0.272) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.97678008G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678008G>A Locations: - p.S102F (NCI-TCGA:ENST00000370626) - p.Ser102Phe (Ensembl:ENST00000370626) - c.305C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs759661969 | 103 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000010.11:g.97678005G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678005G>T Locations: - p.Ala103Glu (Ensembl:ENST00000370626) - c.308C>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1486896746 | 103 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000010.11:g.97678006C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678006C>T Locations: - p.Ala103Thr (Ensembl:ENST00000370626) - c.307G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs759661969 | 103 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.97678005G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678005G>A Locations: - p.Ala103Val (Ensembl:ENST00000370626) - c.308C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1422009359 | 105 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000010.11:g.97678000C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678000C>A Locations: - p.Ala105Ser (Ensembl:ENST00000370626) - c.313G>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1422009359 | 105 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000010.11:g.97678000C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97678000C>T Locations: - p.Ala105Thr (Ensembl:ENST00000370626) - c.313G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1257141946 | 105 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000010.11:g.97677999G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677999G>A Locations: - p.Ala105Val (Ensembl:ENST00000370626) - c.314C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2135768244 | 106 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000010.11:g.97677997T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677997T>C Locations: - p.Asn106Asp (Ensembl:ENST00000370626) - c.316A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1477913355 | 109 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97677988T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677988T>A Locations: - p.Ser109Cys (Ensembl:ENST00000370626) - c.325A>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs139597558 | 109 | S>N | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000010.11:g.97677987C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677987C>T Locations: - p.Ser109Asn (Ensembl:ENST00000370626) - c.326G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs139597558 | 109 | S>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000010.11:g.97677987C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677987C>G Locations: - p.Ser109Thr (Ensembl:ENST00000370626) - c.326G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2041675301 | 110 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.35) - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000010.11:g.97677985C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677985C>T Locations: - p.A110T (NCI-TCGA:ENST00000370626) - p.Ala110Thr (Ensembl:ENST00000370626) - c.328G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV101033309 rs941243490 | 110 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: tolerated (0.1) - PolyPhen: benign (0.039) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000010.11:g.97677984G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677984G>A Locations: - p.A110V (NCI-TCGA:ENST00000370626) - p.Ala110Val (Ensembl:ENST00000370626) - c.329C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs749718877 | 112 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000010.11:g.97677979C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677979C>G Locations: - p.Glu112Gln (Ensembl:ENST00000370626) - c.334G>C (Ensembl:ENST00000370626) Source type: large scale study | |||||||
TCGA novel rs2041675192 | 114 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) - PolyPhen: benign (0.087) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000010.11:g.97677972G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677972G>A Locations: - p.A114V (NCI-TCGA:ENST00000370626) - p.Ala114Val (Ensembl:ENST00000370626) - c.341C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2041675176 | 115 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000010.11:g.97677970A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677970A>C Locations: - p.Ser115Ala (Ensembl:ENST00000370626) - c.343T>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs200939072 | 115 | S>F | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.566) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97677969G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677969G>A Locations: - p.Ser115Phe (Ensembl:ENST00000370626) - c.344C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs770430421 | 116 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000010.11:g.97677966C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677966C>T Locations: - p.Ser116Asn (Ensembl:ENST00000370626) - c.347G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs112410295 | 117 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97677964C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677964C>A Locations: - p.Glu117Ter (Ensembl:ENST00000370626) - c.349G>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs746461379 | 117 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000010.11:g.97677962C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677962C>G Locations: - p.Glu117Asp (Ensembl:ENST00000370626) - c.351G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs112410295 | 117 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000010.11:g.97677964C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677964C>T Locations: - p.Glu117Lys (Ensembl:ENST00000370626) - c.349G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs539175341 | 118 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000010.11:g.97677961G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677961G>C Locations: - p.Gln118Glu (Ensembl:ENST00000370626) - c.352C>G (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs1374432770 | 118 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.658) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.97677959C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677959C>G Locations: - p.Gln118His (Ensembl:ENST00000370626) - c.354G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1259708642 TCGA novel | 119 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | gnomAD NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97677956A>T, NC_000010.11:g.97677956A>C Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677956A>T, NC_000010.11:g.97677956A>C Locations: - p.Tyr119Ter (Ensembl:ENST00000370626) - c.357T>A (Ensembl:ENST00000370626) - c.357T>G (NCI-TCGA:ENST00000370626) - p.Y119* (NCI-TCGA:ENST00000370626) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1589942039 | 119 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.334) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000010.11:g.97677957T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677957T>C Locations: - p.Tyr119Cys (Ensembl:ENST00000370626) - c.356A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs757996345 | 120 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000010.11:g.97677954A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677954A>G Locations: - p.Leu120Pro (Ensembl:ENST00000370626) - c.359T>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1355036180 | 121 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000010.11:g.97677951T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677951T>C Locations: - p.His121Arg (Ensembl:ENST00000370626) - c.362A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs778989445 | 122 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000010.11:g.97677949A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677949A>G Locations: - p.Ser122Pro (Ensembl:ENST00000370626) - c.364T>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041674573 | 124 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000010.11:g.97677943T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677943T>C Locations: - p.Lys124Glu (Ensembl:ENST00000370626) - c.370A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs745481980 | 124 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.97677941C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677941C>A Locations: - p.Lys124Asn (Ensembl:ENST00000370626) - c.372G>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs376013843 | 125 | K>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000010.11:g.97677940T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677940T>G Locations: - p.Lys125Gln (Ensembl:ENST00000370626) - c.373A>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs757001542 | 125 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000010.11:g.97677939T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677939T>C Locations: - p.Lys125Arg (Ensembl:ENST00000370626) - c.374A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
COSV101033296 | 126 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000010.11:g.97677936C>T Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677936C>T Locations: - c.377G>A (NCI-TCGA:ENST00000370626) - p.S126N (NCI-TCGA:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs1440593384 | 127 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000010.11:g.97677933G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677933G>A Locations: - p.Ala127Val (Ensembl:ENST00000370626) - c.380C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs753659845 | 129 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000010.11:g.97677928T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677928T>C Locations: - p.Ile129Val (Ensembl:ENST00000370626) - c.385A>G (Ensembl:ENST00000370626) Source type: large scale study | |||||||
COSV65697367 rs146044000 | 130 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002786 (gnomAD) Accession: NC_000010.11:g.97677925G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677925G>A Locations: - p.R130C (NCI-TCGA:ENST00000370626) - p.Arg130Cys (Ensembl:ENST00000370626) - c.388C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs146044000 | 130 | R>G | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97677925G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677925G>C Locations: - p.Arg130Gly (Ensembl:ENST00000370626) - c.388C>G (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs367683380 | 130 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000010.11:g.97677924C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677924C>T Locations: - p.Arg130His (Ensembl:ENST00000370626) - c.389G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs374997584 | 131 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000010.11:g.97677921C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677921C>T Locations: - p.Arg131Gln (Ensembl:ENST00000370626) - c.392G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs537218547 | 131 | R>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.721) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.97677922G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677922G>A Locations: - p.Arg131Trp (Ensembl:ENST00000370626) - c.391C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs774414600 | 133 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97677914C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677914C>T Locations: - p.Trp133Ter (Ensembl:ENST00000370626) - c.399G>A (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs2041674256 | 133 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000010.11:g.97677916A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677916A>G Locations: - p.Trp133Arg (Ensembl:ENST00000370626) - c.397T>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs753720850 | 135 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000010.11:g.97677909T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677909T>C Locations: - p.Lys135Arg (Ensembl:ENST00000370626) - c.404A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041674162 | 137 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000010.11:g.97677903C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677903C>T Locations: - p.Gly137Asp (Ensembl:ENST00000370626) - c.410G>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041674135 | 138 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.97677901G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677901G>A Locations: - p.Pro138Ser (Ensembl:ENST00000370626) - c.412C>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs2041674135 | 138 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000010.11:g.97677901G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677901G>T Locations: - p.Pro138Thr (Ensembl:ENST00000370626) - c.412C>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs142341567 | 139 | T>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.97677897G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677897G>A Locations: - p.Thr139Ile (Ensembl:ENST00000370626) - c.416C>T (Ensembl:ENST00000370626) Source type: large scale study | |||||||
rs146189926 | 140 | S>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.97677895T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677895T>A Locations: - p.Ser140Cys (Ensembl:ENST00000370626) - c.418A>T (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs146189926 | 140 | S>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000010.11:g.97677895T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677895T>C Locations: - p.Ser140Gly (Ensembl:ENST00000370626) - c.418A>G (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs78694894 | 140 | S>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000010.11:g.97677894C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677894C>G Locations: - p.Ser140Thr (Ensembl:ENST00000370626) - c.419G>C (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
rs904050965 | 141 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.97677890G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677890G>T Locations: - p.Tyr141Ter (Ensembl:ENST00000370626) - c.423C>A (Ensembl:ENST00000370626) Source type: large scale study Cross-references: | |||||||
TCGA novel | 146 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.97677876C>G Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677876C>G Locations: - c.437G>C (NCI-TCGA:ENST00000370626) - p.R146T (NCI-TCGA:ENST00000370626) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs748658146 | 147 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000010.11:g.97677873T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 10q24.2 Genomic location: NC_000010.11:g.97677873T>C Locations: - p.His147Arg (Ensembl:ENST00000370626) - c.440A>G (Ensembl:ENST00000370626) Source type: large scale study |