K7ES06 · K7ES06_HUMAN
- ProteinTransmembrane p24 trafficking protein 1
- GeneTMED1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1447384521 | 2 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.10836186C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836186C>T Locations: - p.Met2Ile (Ensembl:ENST00000591157) - c.6G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs865939710 | 2 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.10836187A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836187A>G Locations: - p.Met2Thr (Ensembl:ENST00000591157) - c.5T>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs868215023 | 3 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000019.10:g.10836184G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836184G>T Locations: - p.Ala3Glu (Ensembl:ENST00000591157) - c.8C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs868215023 | 3 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.10836184G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836184G>A Locations: - p.Ala3Val (Ensembl:ENST00000591157) - c.8C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2146228198 | 4 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.10836181G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836181G>C Locations: - p.Ala4Gly (Ensembl:ENST00000591157) - c.11C>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs773710781 | 5 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000019.10:g.10836179C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836179C>T Locations: - p.Gly5Ser (Ensembl:ENST00000591157) - c.13G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs770342544 | 6 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000019.10:g.10836176C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836176C>A Locations: - p.Ala6Ser (Ensembl:ENST00000591157) - c.16G>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs770342544 | 6 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000019.10:g.10836176C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836176C>T Locations: - p.Ala6Thr (Ensembl:ENST00000591157) - c.16G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1489512609 | 7 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000019.10:g.10836172G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836172G>C Locations: - p.Ala7Gly (Ensembl:ENST00000591157) - c.20C>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1407946562 | 7 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.10836173C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836173C>G Locations: - p.Ala7Pro (Ensembl:ENST00000591157) - c.19G>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1489512609 | 7 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000019.10:g.10836172G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836172G>A Locations: - p.Ala7Val (Ensembl:ENST00000591157) - c.20C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1292709450 | 8 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.10836170G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836170G>T Locations: - p.Leu8Ile (Ensembl:ENST00000591157) - c.22C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1292709450 | 8 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.10836170G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836170G>C Locations: - p.Leu8Val (Ensembl:ENST00000591157) - c.22C>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs190517297 | 9 | A>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.10836167C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836167C>G Locations: - p.Ala9Pro (Ensembl:ENST00000591157) - c.25G>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs190517297 | 9 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000019.10:g.10836167C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836167C>A Locations: - p.Ala9Ser (Ensembl:ENST00000591157) - c.25G>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs190517297 | 9 | A>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000019.10:g.10836167C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836167C>T Locations: - p.Ala9Thr (Ensembl:ENST00000591157) - c.25G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs564741643 | 9 | A>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000019.10:g.10836166G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836166G>A Locations: - p.Ala9Val (Ensembl:ENST00000591157) - c.26C>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs745361829 | 10 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.10836163A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836163A>C Locations: - p.Leu10Arg (Ensembl:ENST00000591157) - c.29T>G (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs2073427038 | 11 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000019.10:g.10836161C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836161C>T Locations: - p.Ala11Thr (Ensembl:ENST00000591157) - c.31G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs773772491 | 11 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000019.10:g.10836160G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836160G>A Locations: - p.Ala11Val (Ensembl:ENST00000591157) - c.32C>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs777699023 | 12 | L>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.10836157A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836157A>T Locations: - p.Leu12Ter (Ensembl:ENST00000591157) - c.35T>A (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs777699023 | 12 | L>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836157A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836157A>G Locations: - p.Leu12Ser (Ensembl:ENST00000591157) - c.35T>C (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs867855807 | 13 | W>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.10836153C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836153C>A Locations: - p.Trp13Cys (Ensembl:ENST00000591157) - c.39G>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs755836430 | 13 | W>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.10836155A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836155A>C Locations: - p.Trp13Gly (Ensembl:ENST00000591157) - c.37T>G (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs747964247 | 14 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836151A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836151A>G Locations: - p.Leu14Pro (Ensembl:ENST00000591157) - c.41T>C (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs1599650158 | 14 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000019.10:g.10836152G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836152G>C Locations: - p.Leu14Val (Ensembl:ENST00000591157) - c.40C>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs781430415 | 15 | L>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.10836149G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836149G>T Locations: - p.Leu15Ile (Ensembl:ENST00000591157) - c.43C>A (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs1280918632 | 16 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.10836144C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836144C>T Locations: - p.Met16Ile (Ensembl:ENST00000591157) - c.48G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs755208060 | 16 | M>K | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.10836145A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836145A>T Locations: - p.Met16Lys (Ensembl:ENST00000591157) - c.47T>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2073426661 | 16 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.10836146T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836146T>G Locations: - p.Met16Leu (Ensembl:ENST00000591157) - c.46A>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs755208060 | 16 | M>R | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.10836145A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836145A>C Locations: - p.Met16Arg (Ensembl:ENST00000591157) - c.47T>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs758960945 | 17 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000019.10:g.10836142G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836142G>A Locations: - p.Pro17Leu (Ensembl:ENST00000591157) - c.50C>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs758960945 | 17 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.10836142G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836142G>T Locations: - p.Pro17Gln (Ensembl:ENST00000591157) - c.50C>A (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs576258491 | 17 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000019.10:g.10836143G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836143G>A Locations: - p.Pro17Ser (Ensembl:ENST00000591157) - c.49C>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs2073426471 | 18 | P>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000019.10:g.10836139G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836139G>T Locations: - p.Pro18Gln (Ensembl:ENST00000591157) - c.53C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2073426444 | 19 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000019.10:g.10836136A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836136A>C Locations: - p.Val19Gly (Ensembl:ENST00000591157) - c.56T>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1430305284 | 20 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000019.10:g.10836132C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836132C>G Locations: - p.Glu20Asp (Ensembl:ENST00000591157) - c.60G>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1375800361 | 20 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000019.10:g.10836133T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836133T>C Locations: - p.Glu20Gly (Ensembl:ENST00000591157) - c.59A>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs554895627 | 20 | E>Q | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000019.10:g.10836134C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836134C>G Locations: - p.Glu20Gln (Ensembl:ENST00000591157) - c.58G>C (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs1375800361 | 20 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000019.10:g.10836133T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836133T>A Locations: - p.Glu20Val (Ensembl:ENST00000591157) - c.59A>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs765843947 | 21 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.10836130A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836130A>C Locations: - p.Val21Gly (Ensembl:ENST00000591157) - c.62T>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1193827479 | 21 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000019.10:g.10836131C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836131C>A Locations: - p.Val21Leu (Ensembl:ENST00000591157) - c.61G>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1474322652 | 23 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.10836124C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836124C>T Locations: - p.Gly23Glu (Ensembl:ENST00000591157) - c.68G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
COSV53034650 rs767166604 | 24 | A>G | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000019.10:g.10836121G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836121G>C Locations: - p.Ala24Gly (Ensembl:ENST00000591157) - c.71C>G (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs536131776 | 25 | G>E | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.10836118C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836118C>T Locations: - p.Gly25Glu (Ensembl:ENST00000591157) - c.74G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1568329516 | 26 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000019.10:g.10836115G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836115G>T Locations: - p.Pro26His (Ensembl:ENST00000591157) - c.77C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs202141597 | 26 | P>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000019.10:g.10836116G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836116G>A Locations: - p.Pro26Ser (Ensembl:ENST00000591157) - c.76C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1236110650 | 27 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.10836112G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836112G>A Locations: - p.Pro27Leu (Ensembl:ENST00000591157) - c.80C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1236110650 | 27 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000019.10:g.10836112G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836112G>T Locations: - p.Pro27Gln (Ensembl:ENST00000591157) - c.80C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1236110650 | 27 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: No Population frequencies: - MAF: 0.000005375 (gnomAD) Accession: NC_000019.10:g.10836112G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836112G>C Locations: - p.P27R (NCI-TCGA:ENST00000591157) - p.Pro27Arg (Ensembl:ENST00000591157) - c.80C>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs371035329 | 28 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.10836109G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836109G>A Locations: - p.Pro28Leu (Ensembl:ENST00000591157) - c.83C>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs748799774 | 28 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.10836110G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836110G>A Locations: - p.Pro28Ser (Ensembl:ENST00000591157) - c.82C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs769742299 | 29 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000019.10:g.10836107T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836107T>C Locations: - p.Ile29Val (Ensembl:ENST00000591157) - c.85A>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1308269762 | 31 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836100T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836100T>C Locations: - p.Asp31Gly (Ensembl:ENST00000591157) - c.92A>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1326312215 | 32 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836098C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836098C>A Locations: - p.Gly32Cys (Ensembl:ENST00000591157) - c.94G>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1326312215 | 32 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.10836098C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836098C>G Locations: - p.Gly32Arg (Ensembl:ENST00000591157) - c.94G>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs866840094 | 32 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.10836097C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836097C>A Locations: - p.Gly32Val (Ensembl:ENST00000591157) - c.95G>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs780893101 | 33 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836094T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836094T>G Locations: - p.Glu33Ala (Ensembl:ENST00000591157) - c.98A>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1568329497 | 33 | E>G | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.10836132_10836133insGTCCTGGATTGGCGGGGGCCCCGCCCCTCCCACC Codon: GAGGTGGGAGGGGCGGGGCCCCCGCCAATCCAGGACGGTGAG/GAGGTGGGAGGGGCGGGGCCCCCGCCAATCCAGGACGGTGGGAGGGGCGGGGCCCCCGCCAATCCAGGACGGTGAG Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836132_10836133insGTCCTGGATTGGCGGGGGCCCCGCCCCTCCCACC Locations: - p.Glu33GlyfsTer12 (Ensembl:ENST00000591157) - c.97_98insGGAGGGGCGGGGCCCCCGCCAATCCAGGACGGTG (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2073425183 | 35 | T>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836088G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836088G>A Locations: - p.Thr35Met (Ensembl:ENST00000591157) - c.104C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1399833670 | 36 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836085A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836085A>G Locations: - p.Phe36Ser (Ensembl:ENST00000591157) - c.107T>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs772347166 | 40 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836073G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836073G>A Locations: - p.Ala40Val (Ensembl:ENST00000591157) - c.119C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs755227194 | 41 | G>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.607) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836071C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836071C>A Locations: - p.Gly41Trp (Ensembl:ENST00000591157) - c.121G>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1599650034 | 42 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.10836068T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836068T>C Locations: - p.Arg42Gly (Ensembl:ENST00000591157) - c.124A>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1599650034 | 42 | R>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836068T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836068T>A Locations: - p.Arg42Trp (Ensembl:ENST00000591157) - c.124A>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2146227890 | 43 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.10836065T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836065T>C Locations: - p.Lys43Glu (Ensembl:ENST00000591157) - c.127A>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1414388188 | 44 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.10836062G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836062G>A Locations: - p.Gln44Ter (Ensembl:ENST00000591157) - c.130C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1414388188 | 44 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836062G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836062G>T Locations: - p.Gln44Lys (Ensembl:ENST00000591157) - c.130C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1182831408 | 45 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836058C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836058C>T Locations: - p.Cys45Tyr (Ensembl:ENST00000591157) - c.134G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
COSV99284017 rs780438595 | 46 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.10836054G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836054G>C Locations: - p.F46L (NCI-TCGA:ENST00000591157) - p.Phe46Leu (Ensembl:ENST00000591157) - c.138C>G (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs758488349 | 47 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836053A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836053A>G Locations: - p.Tyr47His (Ensembl:ENST00000591157) - c.139T>C (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs750562899 | 48 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.10836050G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836050G>A Locations: - p.Gln48Ter (Ensembl:ENST00000591157) - c.142C>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs750562899 | 48 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836050G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836050G>C Locations: - p.Gln48Glu (Ensembl:ENST00000591157) - c.142C>G (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs2073424786 | 48 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.36) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836048C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836048C>G Locations: - p.Gln48His (Ensembl:ENST00000591157) - c.144G>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs138336387 | 49 | S>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.10836047A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836047A>C Locations: - p.Ser49Ala (Ensembl:ENST00000591157) - c.145T>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2073424669 | 49 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.10836046G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836046G>C Locations: - p.Ser49Cys (Ensembl:ENST00000591157) - c.146C>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
COSV107228666 rs138336387 | 49 | S>P | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.5) Somatic: Yes Accession: NC_000019.10:g.10836047A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836047A>G Locations: - p.Ser49Pro (Ensembl:ENST00000591157) - c.145T>C (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs138336387 | 49 | S>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.10836047A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836047A>T Locations: - p.Ser49Thr (Ensembl:ENST00000591157) - c.145T>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2073424622 | 50 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000019.10:g.10836044C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836044C>T Locations: - p.Ala50Thr (Ensembl:ENST00000591157) - c.148G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1266936745 | 50 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.10836043G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836043G>A Locations: - p.Ala50Val (Ensembl:ENST00000591157) - c.149C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1330629069 | 52 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.10836037G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836037G>C Locations: - p.Ala52Gly (Ensembl:ENST00000591157) - c.155C>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2073424477 | 53 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.10836034T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836034T>C Locations: - p.Asn53Ser (Ensembl:ENST00000591157) - c.158A>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1049968955 | 55 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836028C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836028C>T Locations: - p.Ser55Asn (Ensembl:ENST00000591157) - c.164G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1049968955 | 55 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000019.10:g.10836028C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836028C>G Locations: - p.Ser55Thr (Ensembl:ENST00000591157) - c.164G>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs934253935 | 57 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836023C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836023C>T Locations: - p.Glu57Lys (Ensembl:ENST00000591157) - c.169G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs764422843 | 58 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.10836020T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836020T>C Locations: - p.Thr58Ala (Ensembl:ENST00000591157) - c.172A>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1396531721 | 58 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836019G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836019G>T Locations: - p.Thr58Asn (Ensembl:ENST00000591157) - c.173C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs761111908 | 59 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836015T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836015T>G Locations: - p.Glu59Asp (Ensembl:ENST00000591157) - c.177A>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2073424276 | 59 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.195) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836017C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836017C>T Locations: - p.Glu59Lys (Ensembl:ENST00000591157) - c.175G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1257964551 | 60 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.10836012G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836012G>C Locations: - p.Tyr60Ter (Ensembl:ENST00000591157) - c.180C>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1455664938 | 61 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.10836011G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836011G>A Locations: - p.Gln61Ter (Ensembl:ENST00000591157) - c.181C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs766046399 | 61 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10836009C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836009C>G Locations: - p.Gln61His (Ensembl:ENST00000591157) - c.183G>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
COSV53033349 rs773805483 | 61 | Q>R | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.10836010T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10836010T>C Locations: - p.Gln61Arg (Ensembl:ENST00000591157) - c.182A>G (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs756690894 | 62 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835353C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835353C>A Locations: - p.Val62Leu (Ensembl:ENST00000591157) - c.184G>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs571976171 | 64 | G>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.10835346C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835346C>G Locations: - p.Gly64Ala (Ensembl:ENST00000591157) - c.191G>C (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs571976171 | 64 | G>E | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.10835346C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835346C>T Locations: - p.Gly64Glu (Ensembl:ENST00000591157) - c.191G>A (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs2073415009 | 65 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835344C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835344C>T Locations: - p.Gly65Ser (Ensembl:ENST00000591157) - c.193G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1482558156 | 68 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835334A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835334A>C Locations: - p.Leu68Arg (Ensembl:ENST00000591157) - c.203T>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1249347747 | 69 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835331T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835331T>C Locations: - p.Asp69Gly (Ensembl:ENST00000591157) - c.206A>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs758037673 | 70 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835328A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835328A>G Locations: - p.Val70Ala (Ensembl:ENST00000591157) - c.209T>C (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs2073414824 | 71 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835324G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835324G>T Locations: - p.Asp71Glu (Ensembl:ENST00000591157) - c.213C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2073414797 | 72 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.10835321G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835321G>C Locations: - p.Phe72Leu (Ensembl:ENST00000591157) - c.216C>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs200029921 | 73 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.458) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.10835319G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835319G>A Locations: - p.Thr73Met (Ensembl:ENST00000591157) - c.218C>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs905269521 | 74 | L>Q | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835316A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835316A>T Locations: - p.Leu74Gln (Ensembl:ENST00000591157) - c.221T>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1285335796 | 76 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.10835310C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835310C>T Locations: - p.Ser76Asn (Ensembl:ENST00000591157) - c.227G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs372481370 | 77 | P>S | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835308G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835308G>A Locations: - p.Pro77Ser (Ensembl:ENST00000591157) - c.229C>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
COSV53035135 rs372481370 | 77 | P>T | cosmic curated ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.10835308G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835308G>T Locations: - p.Pro77Thr (Ensembl:ENST00000591157) - c.229C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
COSV99284240 rs2073414388 | 78 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.10835305G>A Codon: CAG/TAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835305G>A Locations: - p.Q78* (NCI-TCGA:ENST00000591157) - p.Gln78Ter (Ensembl:ENST00000591157) - c.232C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs200409984 | 79 | G>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.10835301C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835301C>G Locations: - p.Gly79Ala (Ensembl:ENST00000591157) - c.236G>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
COSV106337060 rs200409984 | 79 | G>V | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.10835301C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835301C>A Locations: - p.Gly79Val (Ensembl:ENST00000591157) - c.236G>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1355511814 | 80 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.10835299C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835299C>T Locations: - p.Val80Met (Ensembl:ENST00000591157) - c.238G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs2073414219 | 81 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835295A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835295A>G Locations: - p.Leu81Pro (Ensembl:ENST00000591157) - c.242T>C (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1568328979 | 82 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000019.10:g.10835291C>G, NC_000019.10:g.10835291C>A Codon: TTG/TTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835291C>G, NC_000019.10:g.10835291C>A Locations: - p.Leu82Phe (Ensembl:ENST00000591157) - c.246G>C (Ensembl:ENST00000591157) - c.246G>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1294079269 | 83 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000019.10:g.10835116C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835116C>A Locations: - p.Gly83Val (Ensembl:ENST00000591157) - c.248G>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs777295322 | 84 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000019.10:g.10835113C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835113C>T Locations: - p.Gly84Glu (Ensembl:ENST00000591157) - c.251G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs748910147 | 84 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835114C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835114C>T Locations: - p.Gly84Arg (Ensembl:ENST00000591157) - c.250G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs141676003 | 85 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000019.10:g.10835111C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835111C>T Locations: - p.Ala85Thr (Ensembl:ENST00000591157) - c.253G>A (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs976212983 | 85 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000019.10:g.10835110G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835110G>A Locations: - p.Ala85Val (Ensembl:ENST00000591157) - c.254C>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1568328795 | 86 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835107T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835107T>C Locations: - p.Asn86Ser (Ensembl:ENST00000591157) - c.257A>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1335079488 | 86 | N>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835108T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835108T>A Locations: - p.Asn86Tyr (Ensembl:ENST00000591157) - c.256A>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs752274359 | 87 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835104C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835104C>T Locations: - p.Gly87Glu (Ensembl:ENST00000591157) - c.260G>A (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs2073410755 | 87 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000019.10:g.10835105C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835105C>T Locations: - p.Gly87Arg (Ensembl:ENST00000591157) - c.259G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs767535879 | 89 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835099G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835099G>C Locations: - p.Arg89Gly (Ensembl:ENST00000591157) - c.265C>G (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs767535879 | 89 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835099G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835099G>A Locations: - p.Arg89Trp (Ensembl:ENST00000591157) - c.265C>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs2073410569 | 90 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835096C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835096C>T Locations: - p.Gly90Arg (Ensembl:ENST00000591157) - c.268G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs755003968 | 90 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835095C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835095C>A Locations: - p.Gly90Val (Ensembl:ENST00000591157) - c.269G>T (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs922135638 | 92 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835090G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835090G>C Locations: - p.Gln92Glu (Ensembl:ENST00000591157) - c.274C>G (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs922135638 | 92 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835090G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835090G>T Locations: - p.Gln92Lys (Ensembl:ENST00000591157) - c.274C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1221597015 | 92 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835089T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835089T>A Locations: - p.Gln92Leu (Ensembl:ENST00000591157) - c.275A>T (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
COSV99284085 rs375902608 | 93 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835086G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835086G>T Locations: - p.A93D (NCI-TCGA:ENST00000591157) - p.Ala93Asp (Ensembl:ENST00000591157) - c.278C>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs1247852002 | 94 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.10835084C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835084C>T Locations: - p.Val94Met (Ensembl:ENST00000591157) - c.280G>A (Ensembl:ENST00000591157) Source type: large scale study Cross-references: | |||||||
rs766258660 | 95 | L>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000019.10:g.10835081G>T Codon: TGC/TGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835081G>T Locations: - p.Leu95Ile (Ensembl:ENST00000591157) - c.283C>A (Ensembl:ENST00000591157) Source type: large scale study | |||||||
rs766258660 | 95 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.69) Somatic: No Accession: NC_000019.10:g.10835081G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835081G>C Locations: - p.Leu95Val (Ensembl:ENST00000591157) - c.283C>G (Ensembl:ENST00000591157) Source type: large scale study | |||||||
VAR_036533 rs755003968 | 102 | D>N | a breast cancer sample; somatic mutation (UniProt) | Variant of uncertain significance (UniProt) | UniProt ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000019.10:g.10835095C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.10835095C>T Locations: - p.Asp102Asn (UniProt:Q13445) - p.Gly90Glu (Ensembl:ENST00000591157) - c.269G>A (Ensembl:ENST00000591157) Source type: mixed Cross-references: |