Q13319 · CD5R2_HUMAN
- ProteinCyclin-dependent kinase 5 activator 2
- GeneCDK5R2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids367 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1170507726 | 2 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218959825G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959825G>T Locations: - p.Gly2Val (Ensembl:ENST00000302625) - c.5G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1435113245 | 7 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218959840T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959840T>G Locations: - p.Leu7Arg (Ensembl:ENST00000302625) - c.20T>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1307298924 | 8 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.218959843C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959843C>A Locations: - p.Ser8Ter (Ensembl:ENST00000302625) - c.23C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945188076 | 9 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218959845C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959845C>A Locations: - p.Pro9Thr (Ensembl:ENST00000302625) - c.25C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs893709658 | 10 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000002.12:g.218959848G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959848G>A Locations: - p.Ala10Thr (Ensembl:ENST00000302625) - c.28G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs201718137 | 10 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218959849C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959849C>T Locations: - p.Ala10Val (Ensembl:ENST00000302625) - c.29C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1330937355 | 12 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.218959855C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959855C>T Locations: - p.Ser12Leu (Ensembl:ENST00000302625) - c.35C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs867582509 | 13 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000002.12:g.218959857G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959857G>A Locations: - p.Ala13Thr (Ensembl:ENST00000302625) - c.37G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs950535523 | 16 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000002.12:g.218959867G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959867G>A Locations: - p.Arg16Gln (Ensembl:ENST00000302625) - c.47G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945188382 | 17 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218959869A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959869A>T Locations: - p.Arg17Trp (Ensembl:ENST00000302625) - c.49A>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1350418622 | 18 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.218959873C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959873C>T Locations: - p.Pro18Leu (Ensembl:ENST00000302625) - c.53C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945188408 | 18 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000002.12:g.218959872C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959872C>T Locations: - p.Pro18Ser (Ensembl:ENST00000302625) - c.52C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs773353083 | 19 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.218959875G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959875G>A Locations: - p.Gly19Ser (Ensembl:ENST00000302625) - c.55G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs753190569 | 20 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000002.12:g.218959878G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959878G>A Locations: - p.Gly20Arg (Ensembl:ENST00000302625) - c.58G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1482346728 | 21 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218959882T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959882T>G Locations: - p.Leu21Arg (Ensembl:ENST00000302625) - c.62T>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945188644 | 22 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000002.12:g.218959884C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959884C>T Locations: - p.Pro22Ser (Ensembl:ENST00000302625) - c.64C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1198154277 | 23 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000002.12:g.218959887G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959887G>A Locations: - p.Glu23Lys (Ensembl:ENST00000302625) - c.67G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 24 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000002.12:g.218959891A>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959891A>C Locations: - c.71A>C (NCI-TCGA:ENST00000302625) - p.E24A (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1347070948 | 24 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000002.12:g.218959890G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959890G>A Locations: - p.Glu24Lys (Ensembl:ENST00000302625) - c.70G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs766248382 | 27 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000002.12:g.218959900A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959900A>G Locations: - p.Lys27Arg (Ensembl:ENST00000302625) - c.80A>G (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1196226179 | 28 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000002.12:g.218959903C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959903C>T Locations: - p.Ala28Val (Ensembl:ENST00000302625) - c.83C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1177646407 | 29 | P>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218959906C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959906C>A Locations: - p.Pro29Gln (Ensembl:ENST00000302625) - c.86C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
COSV56937035 | 31 | A>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: tolerated (0.27) Somatic: Yes Accession: NC_000002.12:g.218959912C>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959912C>A Locations: - c.92C>A (NCI-TCGA:ENST00000302625) - p.A31E (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1411113776 | 31 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000002.12:g.218959912C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959912C>G Locations: - p.Ala31Gly (Ensembl:ENST00000302625) - c.92C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945189009 | 31 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000002.12:g.218959911G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959911G>T Locations: - p.Ala31Ser (Ensembl:ENST00000302625) - c.91G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
COSV56936808 | 31 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.42) Somatic: Yes Accession: NC_000002.12:g.218959911G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959911G>A Locations: - c.91G>A (NCI-TCGA:ENST00000302625) - p.A31T (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1411113776 | 31 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000002.12:g.218959912C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959912C>T Locations: - p.Ala31Val (Ensembl:ENST00000302625) - c.92C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945189158 | 33 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000002.12:g.218959917G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959917G>C Locations: - p.Asp33His (Ensembl:ENST00000302625) - c.97G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1388136797 | 34 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000002.12:g.218959920G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959920G>A Locations: - p.Glu34Lys (Ensembl:ENST00000302625) - c.100G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1179972250 | 35 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218959924C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959924C>T Locations: - p.Ala35Val (Ensembl:ENST00000302625) - c.104C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1386285407 | 37 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218959930G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959930G>A Locations: - p.Gly37Glu (Ensembl:ENST00000302625) - c.110G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1397227072 | 37 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218959929G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959929G>A Locations: - p.Gly37Arg (Ensembl:ENST00000302625) - c.109G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945189360 | 38 | G>D | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000002.12:g.218959933G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959933G>A Locations: - p.Gly38Asp (Ensembl:ENST00000302625) - c.113G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945189360 | 38 | G>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000002.12:g.218959933G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959933G>T Locations: - p.Gly38Val (Ensembl:ENST00000302625) - c.113G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1482401821 | 40 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000002.12:g.218959939G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959939G>A Locations: - p.Gly40Glu (Ensembl:ENST00000302625) - c.119G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1324089146 | 40 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000002.12:g.218959938G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959938G>A Locations: - p.Gly40Arg (Ensembl:ENST00000302625) - c.118G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945189472 | 41 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.218959942C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959942C>A Locations: - p.Ala41Glu (Ensembl:ENST00000302625) - c.122C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 41 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218959941G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959941G>A Locations: - c.121G>A (NCI-TCGA:ENST00000302625) - p.A41T (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs200705478 | 42 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000002.12:g.218959945C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959945C>T Locations: - p.Pro42Leu (Ensembl:ENST00000302625) - c.125C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs200705478 | 42 | P>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000002.12:g.218959945C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959945C>G Locations: - p.Pro42Arg (Ensembl:ENST00000302625) - c.125C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1257793214 | 42 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000002.12:g.218959944C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959944C>T Locations: - p.Pro42Ser (Ensembl:ENST00000302625) - c.124C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs757960284 | 43 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000002.12:g.218959948C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959948C>T Locations: - p.Pro43Leu (Ensembl:ENST00000302625) - c.128C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945189640 | 44 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000002.12:g.218959951T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959951T>G Locations: - p.Val44Gly (Ensembl:ENST00000302625) - c.131T>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs747589497 | 45 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000002.12:g.218959954G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959954G>A Locations: - p.Gly45Asp (Ensembl:ENST00000302625) - c.134G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs747589497 | 45 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.218959954G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959954G>T Locations: - p.Gly45Val (Ensembl:ENST00000302625) - c.134G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1945189740 | 46 | K>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.218959956A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959956A>T Locations: - p.Lys46Ter (Ensembl:ENST00000302625) - c.136A>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1354995600 | 46 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218959958G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959958G>C Locations: - p.Lys46Asn (Ensembl:ENST00000302625) - c.138G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945189767 | 46 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218959957A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959957A>G Locations: - p.Lys46Arg (Ensembl:ENST00000302625) - c.137A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs757681013 | 47 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000002.12:g.218959960G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959960G>C Locations: - p.Gly47Ala (Ensembl:ENST00000302625) - c.140G>C (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs757681013 | 47 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000002.12:g.218959960G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959960G>A Locations: - p.Gly47Asp (Ensembl:ENST00000302625) - c.140G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs757681013 | 47 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.218959960G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959960G>T Locations: - p.Gly47Val (Ensembl:ENST00000302625) - c.140G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs964744539 | 48 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218959962G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959962G>T Locations: - p.Gly48Cys (Ensembl:ENST00000302625) - c.142G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs781635214 | 48 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218959963G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959963G>A Locations: - p.Gly48Asp (Ensembl:ENST00000302625) - c.143G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs964744539 | 48 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000002.12:g.218959962G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959962G>A Locations: - p.Gly48Ser (Ensembl:ENST00000302625) - c.142G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1187609221 | 49 | K>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218959966A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959966A>T Locations: - p.Lys49Ile (Ensembl:ENST00000302625) - c.146A>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945189967 | 50 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000002.12:g.218959969G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959969G>A Locations: - p.Gly50Asp (Ensembl:ENST00000302625) - c.149G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1245948489 | 50 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000002.12:g.218959968G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959968G>A Locations: - p.Gly50Ser (Ensembl:ENST00000302625) - c.148G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945190036 | 52 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.528) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000002.12:g.218959975G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959975G>A Locations: - p.Ser52Asn (Ensembl:ENST00000302625) - c.155G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs746174739 | 54 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218959981T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959981T>C Locations: - p.Leu54Pro (Ensembl:ENST00000302625) - c.161T>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 57 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218959990C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959990C>T Locations: - c.170C>T (NCI-TCGA:ENST00000302625) - p.P57L (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1162848402 | 58 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218959992T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959992T>G Locations: - p.Ser58Ala (Ensembl:ENST00000302625) - c.172T>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1396831897 | 59 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000002.12:g.218959995G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959995G>A Locations: - p.Val59Met (Ensembl:ENST00000302625) - c.175G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1574480200 | 60 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000002.12:g.218959998C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218959998C>T Locations: - p.Leu60Phe (Ensembl:ENST00000302625) - c.178C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 61 | I>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.56) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000002.12:g.218960001A>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960001A>C Locations: - c.181A>C (NCI-TCGA:ENST00000302625) - p.I61L (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs983607841 | 63 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960008C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960008C>A Locations: - p.Ala63Glu (Ensembl:ENST00000302625) - c.188C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1320159749 | 63 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960007G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960007G>T Locations: - p.Ala63Ser (Ensembl:ENST00000302625) - c.187G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs199733283 | 65 | T>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.533) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218960013A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960013A>G Locations: - p.Thr65Ala (Ensembl:ENST00000302625) - c.193A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1186617122 | 68 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.648) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960023G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960023G>C Locations: - p.Arg68Pro (Ensembl:ENST00000302625) - c.203G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs768901003 | 68 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960022C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960022C>A Locations: - p.Arg68Ser (Ensembl:ENST00000302625) - c.202C>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1258495575 | 71 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218960031G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960031G>A Locations: - p.Ala71Thr (Ensembl:ENST00000302625) - c.211G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1334979464 | 74 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000002.12:g.218960040G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960040G>T Locations: - p.Ala74Ser (Ensembl:ENST00000302625) - c.220G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs779139103 | 74 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960041C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960041C>T Locations: - p.Ala74Val (Ensembl:ENST00000302625) - c.221C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1402260484 | 75 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960045G>T, NC_000002.12:g.218960045G>C Codon: AAG/AAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960045G>T, NC_000002.12:g.218960045G>C Locations: - p.Lys75Asn (Ensembl:ENST00000302625) - c.225G>T (Ensembl:ENST00000302625) - c.225G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1186911080 | 80 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960060C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960060C>A Locations: - p.Ser80Arg (Ensembl:ENST00000302625) - c.240C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs776491505 | 82 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.218960065A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960065A>G Locations: - p.Lys82Arg (Ensembl:ENST00000302625) - c.245A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs759194480 | 86 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000002.12:g.218960076A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960076A>G Locations: - p.Lys86Glu (Ensembl:ENST00000302625) - c.256A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs765003006 | 87 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218960080C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960080C>T Locations: - p.Pro87Leu (Ensembl:ENST00000302625) - c.260C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs11552546 | 91 | G>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.218960091G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960091G>T Locations: - p.Gly91Cys (Ensembl:ENST00000302625) - c.271G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs763641896 | 91 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218960092G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960092G>A Locations: - p.Gly91Asp (Ensembl:ENST00000302625) - c.272G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs11552546 | 91 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.218960091G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960091G>C Locations: - p.Gly91Arg (Ensembl:ENST00000302625) - c.271G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1455588096 | 92 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000002.12:g.218960094C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960094C>T Locations: - p.Pro92Ser (Ensembl:ENST00000302625) - c.274C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1330680058 | 93 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000002.12:g.218960099C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960099C>A Locations: - p.Asp93Glu (Ensembl:ENST00000302625) - c.279C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs781480596 | 93 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000002.12:g.218960098A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960098A>G Locations: - p.Asp93Gly (Ensembl:ENST00000302625) - c.278A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs372811293 | 94 | P>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000002.12:g.218960100C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960100C>G Locations: - p.Pro94Ala (Ensembl:ENST00000302625) - c.280C>G (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs893749446 | 94 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.218960101C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960101C>T Locations: - p.Pro94Leu (Ensembl:ENST00000302625) - c.281C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs372811293 | 94 | P>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000002.12:g.218960100C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960100C>T Locations: - p.Pro94Ser (Ensembl:ENST00000302625) - c.280C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs372811293 | 94 | P>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000002.12:g.218960100C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960100C>A Locations: - p.Pro94Thr (Ensembl:ENST00000302625) - c.280C>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs756618315 | 95 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000002.12:g.218960104T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960104T>C Locations: - p.Leu95Pro (Ensembl:ENST00000302625) - c.284T>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
RCV002251817 rs2105999258 | 98 | Q>* | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.218960112C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960112C>T Locations: - p.Gln98Ter (Ensembl:ENST00000302625) - c.292C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
COSV100225875 | 99 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000002.12:g.218960115C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960115C>T Locations: - c.295C>T (NCI-TCGA:ENST00000302625) - p.R99C (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1434425598 | 100 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218960119A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960119A>G Locations: - p.Asn100Ser (Ensembl:ENST00000302625) - c.299A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs749574562 | 101 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218960121C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960121C>T Locations: - p.Arg101Cys (Ensembl:ENST00000302625) - c.301C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs749574562 | 101 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000002.12:g.218960121C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960121C>G Locations: - p.Arg101Gly (Ensembl:ENST00000302625) - c.301C>G (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1318329161 | 101 | R>H | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000002.12:g.218960122G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960122G>A Locations: - p.Arg101His (Ensembl:ENST00000302625) - c.302G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1318329161 | 101 | R>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000002.12:g.218960122G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960122G>T Locations: - p.Arg101Leu (Ensembl:ENST00000302625) - c.302G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs902357014 | 102 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218960124G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960124G>A Locations: - p.Glu102Lys (Ensembl:ENST00000302625) - c.304G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1484576426 | 104 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218960130C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960130C>T Locations: - p.Leu104Phe (Ensembl:ENST00000302625) - c.310C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 105 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000002.12:g.218960133C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960133C>T Locations: - c.313C>T (NCI-TCGA:ENST00000302625) - p.L105F (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100225822 rs1258175546 | 106 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: tolerated (0.15) - PolyPhen: possibly damaging (0.809) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.218960137G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960137G>A Locations: - p.R106H (NCI-TCGA:ENST00000302625) - p.Arg106His (Ensembl:ENST00000302625) - c.317G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1258175546 | 106 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960137G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960137G>T Locations: - p.Arg106Leu (Ensembl:ENST00000302625) - c.317G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs748109859 | 109 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960145C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960145C>T Locations: - p.Arg109Trp (Ensembl:ENST00000302625) - c.325C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1370035953 | 110 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218960150T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960150T>A Locations: - p.Asp110Glu (Ensembl:ENST00000302625) - c.330T>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs770916373 | 111 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000002.12:g.218960151C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960151C>G Locations: - p.Pro111Ala (Ensembl:ENST00000302625) - c.331C>G (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1008697937 | 111 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000002.12:g.218960152C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960152C>A Locations: - p.Pro111His (Ensembl:ENST00000302625) - c.332C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1008697937 | 111 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000002.12:g.218960152C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960152C>T Locations: - p.Pro111Leu (Ensembl:ENST00000302625) - c.332C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs770916373 | 111 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000002.12:g.218960151C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960151C>T Locations: - p.Pro111Ser (Ensembl:ENST00000302625) - c.331C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1019079569 | 113 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000002.12:g.218960158A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960158A>G Locations: - p.Asp113Gly (Ensembl:ENST00000302625) - c.338A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
COSV56937071 rs1559429647 | 113 | D>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000002.12:g.218960151del Consequence type: frameshift Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960151del Locations: - c.336del (NCI-TCGA:ENST00000302625) - p.D113Tfs*92 (NCI-TCGA:ENST00000302625) Source type: large scale study | |||||||
COSV56935990 | 114 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.64) Somatic: Yes Accession: NC_000002.12:g.218960161G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960161G>A Locations: - c.341G>A (NCI-TCGA:ENST00000302625) - p.G114D (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs776489160 | 115 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218960163G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960163G>T Locations: - p.Gly115Cys (Ensembl:ENST00000302625) - c.343G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1377365682 | 115 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000002.12:g.218960164G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960164G>A Locations: - p.Gly115Asp (Ensembl:ENST00000302625) - c.344G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs776489160 | 115 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: tolerated (0.95) Somatic: No Accession: NC_000002.12:g.218960163G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960163G>A Locations: - p.Gly115Ser (Ensembl:ENST00000302625) - c.343G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs369848571 | 117 | T>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000002.12:g.218960170C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960170C>T Locations: - p.Thr117Ile (Ensembl:ENST00000302625) - c.350C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs2105999297 | 118 | A>P | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000002.12:g.218960172G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960172G>C Locations: - p.Ala118Pro (Ensembl:ENST00000302625) - c.352G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 118 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000002.12:g.218960172G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960172G>A Locations: - c.352G>A (NCI-TCGA:ENST00000302625) - p.A118T (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs775242182 | 118 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000002.12:g.218960173C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960173C>T Locations: - p.Ala118Val (Ensembl:ENST00000302625) - c.353C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1374966125 | 121 | L>P | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000002.12:g.218960182T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960182T>C Locations: - p.Leu121Pro (Ensembl:ENST00000302625) - c.362T>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1374966125 | 121 | L>Q | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000002.12:g.218960182T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960182T>A Locations: - p.Leu121Gln (Ensembl:ENST00000302625) - c.362T>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1300172636 | 122 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.218960184G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960184G>A Locations: - p.Ala122Thr (Ensembl:ENST00000302625) - c.364G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1345420961 | 122 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000002.12:g.218960185C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960185C>T Locations: - p.Ala122Val (Ensembl:ENST00000302625) - c.365C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs2105999311 | 123 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218960188T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960188T>G Locations: - p.Val123Gly (Ensembl:ENST00000302625) - c.368T>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs2105999309 | 123 | V>M | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218960187G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960187G>A Locations: - p.Val123Met (Ensembl:ENST00000302625) - c.367G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs996220497 | 124 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000002.12:g.218960190C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960190C>T Locations: - p.Pro124Ser (Ensembl:ENST00000302625) - c.370C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs762613383 | 125 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000002.12:g.218960193G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960193G>C Locations: - p.Val125Leu (Ensembl:ENST00000302625) - c.373G>C (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs762613383 | 125 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218960193G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960193G>A Locations: - p.Val125Met (Ensembl:ENST00000302625) - c.373G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs763693370 | 126 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000002.12:g.218960196C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960196C>T Locations: - p.Pro126Ser (Ensembl:ENST00000302625) - c.376C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs763693370 | 126 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000002.12:g.218960196C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960196C>A Locations: - p.Pro126Thr (Ensembl:ENST00000302625) - c.376C>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1945192625 | 127 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.533) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000002.12:g.218960199A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960199A>G Locations: - p.Thr127Ala (Ensembl:ENST00000302625) - c.379A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945192625 | 127 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000002.12:g.218960199A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960199A>C Locations: - p.Thr127Pro (Ensembl:ENST00000302625) - c.379A>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs529211330 | 128 | V>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000002.12:g.218960202G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960202G>T Locations: - p.Val128Leu (Ensembl:ENST00000302625) - c.382G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs529211330 | 128 | V>M | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218960202G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960202G>A Locations: - p.Val128Met (Ensembl:ENST00000302625) - c.382G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1288719555 | 129 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.218960206C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960206C>T Locations: - p.Pro129Leu (Ensembl:ENST00000302625) - c.386C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1303571932 | 130 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000002.12:g.218960209C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960209C>T Locations: - p.Ala130Val (Ensembl:ENST00000302625) - c.389C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs908098030 | 133 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000002.12:g.218960217G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960217G>A Locations: - p.Ala133Thr (Ensembl:ENST00000302625) - c.397G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1475778454 | 134 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000002.12:g.218960221C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960221C>T Locations: - p.Thr134Ile (Ensembl:ENST00000302625) - c.401C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs751081443 | 134 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218960220A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960220A>T Locations: - p.Thr134Ser (Ensembl:ENST00000302625) - c.400A>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs761167562 | 135 | C>F | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.648) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000002.12:g.218960224G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960224G>T Locations: - p.Cys135Phe (Ensembl:ENST00000302625) - c.404G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs761167562 | 135 | C>Y | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.72) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218960224G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960224G>A Locations: - p.Cys135Tyr (Ensembl:ENST00000302625) - c.404G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1377194053 | 138 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000002.12:g.218960233C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960233C>T Locations: - p.Pro138Leu (Ensembl:ENST00000302625) - c.413C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945193037 | 140 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000002.12:g.218960238G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960238G>A Locations: - p.Gly140Arg (Ensembl:ENST00000302625) - c.418G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 141 | G>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000002.12:g.218960237del Consequence type: frameshift Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960237del Locations: - c.422del (NCI-TCGA:ENST00000302625) - p.G141Afs*64 (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs767053789 | 141 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218960241G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960241G>T Locations: - p.Gly141Cys (Ensembl:ENST00000302625) - c.421G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs750937404 | 141 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000002.12:g.218960242G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960242G>A Locations: - p.Gly141Asp (Ensembl:ENST00000302625) - c.422G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs750937404 | 141 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000002.12:g.218960242G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960242G>T Locations: - p.Gly141Val (Ensembl:ENST00000302625) - c.422G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1559429697 | 142 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000002.12:g.218960246C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960246C>A Locations: - p.Ser142Arg (Ensembl:ENST00000302625) - c.426C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs2105999366 | 143 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000002.12:g.218960247G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960247G>A Locations: - p.Ala143Thr (Ensembl:ENST00000302625) - c.427G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs780591693 | 144 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218960250G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960250G>T Locations: - p.Ala144Ser (Ensembl:ENST00000302625) - c.430G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs780591693 | 144 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000002.12:g.218960250G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960250G>A Locations: - p.Ala144Thr (Ensembl:ENST00000302625) - c.430G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1429667871 | 145 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000002.12:g.218960253G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960253G>C Locations: - p.Ala145Pro (Ensembl:ENST00000302625) - c.433G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1429667871 | 145 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: tolerated (0.66) - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.66) Somatic: No Population frequencies: - MAF: 0.0002648 (gnomAD) Accession: NC_000002.12:g.218960253G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960253G>A Locations: - p.A145T (NCI-TCGA:ENST00000302625) - p.Ala145Thr (Ensembl:ENST00000302625) - c.433G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs2105999376 | 146 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.533) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000002.12:g.218960258G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960258G>C Locations: - p.Gln146His (Ensembl:ENST00000302625) - c.438G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1216022409 | 148 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000002.12:g.218960263C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960263C>T Locations: - p.Pro148Leu (Ensembl:ENST00000302625) - c.443C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1273740033 | 149 | G>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000002.12:g.218960266G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960266G>A Locations: - p.Gly149Asp (Ensembl:ENST00000302625) - c.446G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs981570225 | 149 | G>R | Variant of uncertain significance (Ensembl) | 1000Genomes TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000002.12:g.218960265G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960265G>C Locations: - p.Gly149Arg (Ensembl:ENST00000302625) - c.445G>C (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs981570225 | 149 | G>S | Variant of uncertain significance (Ensembl) | 1000Genomes TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000002.12:g.218960265G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960265G>A Locations: - p.Gly149Ser (Ensembl:ENST00000302625) - c.445G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1273740033 | 149 | G>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000002.12:g.218960266G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960266G>T Locations: - p.Gly149Val (Ensembl:ENST00000302625) - c.446G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs550501927 | 150 | S>P | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000002.12:g.218960268T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960268T>C Locations: - p.Ser150Pro (Ensembl:ENST00000302625) - c.448T>C (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs550501927 | 150 | S>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000002.12:g.218960268T>A Codon: TCG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960268T>A Locations: - p.Ser150Thr (Ensembl:ENST00000302625) - c.448T>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1945193570 | 152 | G>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.218960274G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960274G>T Locations: - p.Gly152Trp (Ensembl:ENST00000302625) - c.454G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs2105999404 | 154 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000002.12:g.218960280A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960280A>G Locations: - p.Lys154Glu (Ensembl:ENST00000302625) - c.460A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1368544904 | 156 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000002.12:g.218960287C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960287C>T Locations: - p.Pro156Leu (Ensembl:ENST00000302625) - c.467C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1410756646 | 158 | P>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000002.12:g.218960293C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960293C>A Locations: - p.Pro158Gln (Ensembl:ENST00000302625) - c.473C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1442704952 | 159 | P>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000002.12:g.218960296C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960296C>T Locations: - p.Pro159Leu (Ensembl:ENST00000302625) - c.476C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1303878145 | 160 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000002.12:g.218960299C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960299C>T Locations: - p.Pro160Leu (Ensembl:ENST00000302625) - c.479C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1479261566 | 160 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000002.12:g.218960298C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960298C>T Locations: - p.Pro160Ser (Ensembl:ENST00000302625) - c.478C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1182176597 | 161 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000002.12:g.218960302C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960302C>T Locations: - p.Pro161Leu (Ensembl:ENST00000302625) - c.482C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1212679172 | 161 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.94) Somatic: No Accession: NC_000002.12:g.218960301C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960301C>T Locations: - p.Pro161Ser (Ensembl:ENST00000302625) - c.481C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1212679172 | 161 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000002.12:g.218960301C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960301C>A Locations: - p.Pro161Thr (Ensembl:ENST00000302625) - c.481C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1275028645 | 162 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000002.12:g.218960305C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960305C>A Locations: - p.Ala162Asp (Ensembl:ENST00000302625) - c.485C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945193976 | 162 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000002.12:g.218960304G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960304G>A Locations: - p.Ala162Thr (Ensembl:ENST00000302625) - c.484G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1275028645 | 162 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000002.12:g.218960305C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960305C>T Locations: - p.Ala162Val (Ensembl:ENST00000302625) - c.485C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1403850905 | 163 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000002.12:g.218960308C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960308C>G Locations: - p.Pro163Arg (Ensembl:ENST00000302625) - c.488C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs2105999442 | 165 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000002.12:g.218960314T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960314T>C Locations: - p.Val165Ala (Ensembl:ENST00000302625) - c.494T>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945194082 | 165 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.218960313G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960313G>A Locations: - p.Val165Met (Ensembl:ENST00000302625) - c.493G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945194192 | 169 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000002.12:g.218960325G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960325G>T Locations: - p.Val169Leu (Ensembl:ENST00000302625) - c.505G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1272675378 | 170 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000002.12:g.218960328C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960328C>T Locations: - p.Pro170Ser (Ensembl:ENST00000302625) - c.508C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1276861082 | 173 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960338C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960338C>T Locations: - p.Ser173Leu (Ensembl:ENST00000302625) - c.518C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1276861082 | 173 | S>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960338C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960338C>G Locations: - p.Ser173Trp (Ensembl:ENST00000302625) - c.518C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1195804298 | 174 | P>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960341C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960341C>T Locations: - p.Pro174Leu (Ensembl:ENST00000302625) - c.521C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1325125568 | 175 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960344G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960344G>A Locations: - p.R175Q (NCI-TCGA:ENST00000302625) - p.Arg175Gln (Ensembl:ENST00000302625) - c.524G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
TCGA novel | 175 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960343C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960343C>T Locations: - c.523C>T (NCI-TCGA:ENST00000302625) - p.R175W (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1283839613 | 176 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960346C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960346C>T Locations: - p.Arg176Trp (Ensembl:ENST00000302625) - c.526C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1185248884 | 177 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960350T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960350T>G Locations: - p.Val177Gly (Ensembl:ENST00000302625) - c.530T>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1475298802 | 177 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.218960349G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960349G>A Locations: - p.Val177Ile (Ensembl:ENST00000302625) - c.529G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1328649215 | 178 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000002.12:g.218960352A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960352A>G Locations: - p.Ile178Val (Ensembl:ENST00000302625) - c.532A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1422303139 | 181 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960361G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960361G>A Locations: - p.Ala181Thr (Ensembl:ENST00000302625) - c.541G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs868581113 | 183 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960367A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960367A>G Locations: - p.Thr183Ala (Ensembl:ENST00000302625) - c.547A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1462683658 | 184 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000002.12:g.218960371G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960371G>C Locations: - p.Gly184Ala (Ensembl:ENST00000302625) - c.551G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1462683658 | 184 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218960371G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960371G>A Locations: - p.Gly184Asp (Ensembl:ENST00000302625) - c.551G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs748390482 | 184 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960370G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960370G>C Locations: - p.Gly184Arg (Ensembl:ENST00000302625) - c.550G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1228643183 | 189 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.74) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.218960386G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960386G>C Locations: - p.Cys189Ser (Ensembl:ENST00000302625) - c.566G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs777877990 | 191 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960392G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960392G>A Locations: - p.Gly191Asp (Ensembl:ENST00000302625) - c.572G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs745853011 | 192 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960394G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960394G>A Locations: - p.Asp192Asn (Ensembl:ENST00000302625) - c.574G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs745853011 | 192 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960394G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960394G>T Locations: - p.Asp192Tyr (Ensembl:ENST00000302625) - c.574G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1332841731 | 195 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960404G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960404G>A Locations: - p.Cys195Tyr (Ensembl:ENST00000302625) - c.584G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1274075541 | 197 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960409C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960409C>T Locations: - p.Arg197Cys (Ensembl:ENST00000302625) - c.589C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
COSV100225868 | 197 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218960410G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960410G>A Locations: - c.590G>A (NCI-TCGA:ENST00000302625) - p.R197H (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs2105999496 | 197 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960410G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960410G>T Locations: - p.Arg197Leu (Ensembl:ENST00000302625) - c.590G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1446735572 | 198 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960413G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960413G>A Locations: - p.Cys198Tyr (Ensembl:ENST00000302625) - c.593G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs768364758 | 199 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218960416A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960416A>G Locations: - p.Tyr199Cys (Ensembl:ENST00000302625) - c.596A>G (Ensembl:ENST00000302625) Source type: large scale study | |||||||
COSV100225901 rs1244234731 | 200 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960419G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960419G>A Locations: - p.R200H (NCI-TCGA:ENST00000302625) - p.Arg200His (Ensembl:ENST00000302625) - c.599G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1187946896 | 201 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960421C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960421C>T Locations: - p.Leu201Phe (Ensembl:ENST00000302625) - c.601C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1414951676 | 202 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960424A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960424A>G Locations: - p.Lys202Glu (Ensembl:ENST00000302625) - c.604A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1475907215 | 203 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.218960427G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960427G>T Locations: - p.Glu203Ter (Ensembl:ENST00000302625) - c.607G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs773946161 | 203 | E>D | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.218960429G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960429G>T Locations: - p.Glu203Asp (Ensembl:ENST00000302625) - c.609G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1475907215 | 203 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.708) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218960427G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960427G>A Locations: - p.Glu203Lys (Ensembl:ENST00000302625) - c.607G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945195251 | 203 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960428A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960428A>T Locations: - p.Glu203Val (Ensembl:ENST00000302625) - c.608A>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs766987222 | 205 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960433A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960433A>G Locations: - p.Ser205Gly (Ensembl:ENST00000302625) - c.613A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1292037132 | 205 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218960434G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960434G>A Locations: - p.Ser205Asn (Ensembl:ENST00000302625) - c.614G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1487716393 | 206 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960437C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960437C>G Locations: - p.Pro206Arg (Ensembl:ENST00000302625) - c.617C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945195394 | 206 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.562) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218960436C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960436C>T Locations: - p.Pro206Ser (Ensembl:ENST00000302625) - c.616C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 207 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218960439G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960439G>T Locations: - c.619G>T (NCI-TCGA:ENST00000302625) - p.G207C (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1345637725 | 207 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000002.12:g.218960439G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960439G>A Locations: - p.Gly207Ser (Ensembl:ENST00000302625) - c.619G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1447180464 | 207 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218960440G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960440G>T Locations: - p.Gly207Val (Ensembl:ENST00000302625) - c.620G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945195542 | 208 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.218960442G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960442G>A Locations: - p.Glu208Lys (Ensembl:ENST00000302625) - c.622G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs376091707 | 209 | L>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218960445C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960445C>G Locations: - p.Leu209Val (Ensembl:ENST00000302625) - c.625C>G (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1945195647 | 210 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.218960449T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960449T>G Locations: - p.Val210Gly (Ensembl:ENST00000302625) - c.629T>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1235240612 | 211 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960452G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960452G>A Locations: - p.Gly211Asp (Ensembl:ENST00000302625) - c.632G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945195695 | 212 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.218960456G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960456G>A Locations: - p.Trp212Ter (Ensembl:ENST00000302625) - c.636G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1350190032 | 214 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960461G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960461G>A Locations: - p.Arg214His (Ensembl:ENST00000302625) - c.641G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945195762 | 215 | G>V | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960464G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960464G>T Locations: - p.Gly215Val (Ensembl:ENST00000302625) - c.644G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1286769800 | 217 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960471C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960471C>A Locations: - p.Asp217Glu (Ensembl:ENST00000302625) - c.651C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1178164050 | 218 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960472C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960472C>T Locations: - p.Arg218Cys (Ensembl:ENST00000302625) - c.652C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1447956230 | 218 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960473G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960473G>A Locations: - p.Arg218His (Ensembl:ENST00000302625) - c.653G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1447956230 | 218 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960473G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960473G>T Locations: - p.Arg218Leu (Ensembl:ENST00000302625) - c.653G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1447466372 | 219 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960476C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960476C>T Locations: - p.Ser219Leu (Ensembl:ENST00000302625) - c.656C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs890507463 | 221 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960481C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960481C>G Locations: - p.Leu221Val (Ensembl:ENST00000302625) - c.661C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945195965 | 222 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960485T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960485T>A Locations: - p.Leu222Gln (Ensembl:ENST00000302625) - c.665T>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 228 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960502C>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960502C>A Locations: - c.682C>A (NCI-TCGA:ENST00000302625) - p.Q228K (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1574480475 | 228 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960503A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960503A>C Locations: - p.Gln228Pro (Ensembl:ENST00000302625) - c.683A>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1017722140 | 229 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960506C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960506C>A Locations: - p.Ala229Asp (Ensembl:ENST00000302625) - c.686C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945196110 | 229 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218960505G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960505G>A Locations: - p.Ala229Thr (Ensembl:ENST00000302625) - c.685G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
COSV56936916 COSV56936916,COSV56937507 COSV56937507 | 232 | T>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960515C>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960515C>A Locations: - c.695C>A (NCI-TCGA:ENST00000302625) - p.T232K (NCI-TCGA:ENST00000302625) Source type: large scale study | |||||||
rs2105999574 | 233 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960517C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960517C>A Locations: - p.Pro233Thr (Ensembl:ENST00000302625) - c.697C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1159997739 | 234 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960520G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960520G>T Locations: - p.Ala234Ser (Ensembl:ENST00000302625) - c.700G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1433872879 | 236 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218960526C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960526C>G Locations: - p.Leu236Val (Ensembl:ENST00000302625) - c.706C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs765629753 | 240 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.218960540C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960540C>G Locations: - p.Tyr240Ter (Ensembl:ENST00000302625) - c.720C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1415368253 | 246 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.218960557C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960557C>T Locations: - p.Ser246Leu (Ensembl:ENST00000302625) - c.737C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs756047603 | 248 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960562C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960562C>T Locations: - p.Arg248Cys (Ensembl:ENST00000302625) - c.742C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs779904283 | 248 | R>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218960563G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960563G>A Locations: - p.Arg248His (Ensembl:ENST00000302625) - c.743G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs756047603 | 248 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000002.12:g.218960562C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960562C>A Locations: - p.Arg248Ser (Ensembl:ENST00000302625) - c.742C>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1234045942 | 249 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218960566G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960566G>A Locations: - p.Gly249Glu (Ensembl:ENST00000302625) - c.746G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
COSV100225996 | 254 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218960580T>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960580T>C Locations: - c.760T>C (NCI-TCGA:ENST00000302625) - p.S254P (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 255 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000002.12:g.218960584C>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960584C>A Locations: - c.764C>A (NCI-TCGA:ENST00000302625) - p.A255D (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1185053207 | 255 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.633) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960584C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960584C>G Locations: - p.Ala255Gly (Ensembl:ENST00000302625) - c.764C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1185053207 | 255 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960584C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960584C>T Locations: - p.Ala255Val (Ensembl:ENST00000302625) - c.764C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs749207583 | 256 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.218960587C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960587C>A Locations: - p.Ala256Asp (Ensembl:ENST00000302625) - c.767C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945196620 | 256 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.218960586G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960586G>A Locations: - p.Ala256Thr (Ensembl:ENST00000302625) - c.766G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1350638274 | 257 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.218960591G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960591G>C Locations: - p.Glu257Asp (Ensembl:ENST00000302625) - c.771G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
COSV56936009 | 257 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218960589G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960589G>A Locations: - c.769G>A (NCI-TCGA:ENST00000302625) - p.E257K (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1249192867 | 259 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.218960595C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960595C>T Locations: - p.Gln259Ter (Ensembl:ENST00000302625) - c.775C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1263238796 | 260 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.424) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960598G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960598G>A Locations: - p.Ala260Thr (Ensembl:ENST00000302625) - c.778G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs774178690 | 261 | A>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000002.12:g.218960601G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960601G>T Locations: - p.Ala261Ser (Ensembl:ENST00000302625) - c.781G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs774178690 | 261 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.94) Somatic: No Accession: NC_000002.12:g.218960601G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960601G>A Locations: - p.Ala261Thr (Ensembl:ENST00000302625) - c.781G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
COSV100226007 rs1233130991 | 261 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.42) - PolyPhen: benign (0.072) - SIFT: tolerated (0.48) Somatic: No Population frequencies: - MAF: 0.000004037 (gnomAD) Accession: NC_000002.12:g.218960602C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960602C>T Locations: - p.A261V (NCI-TCGA:ENST00000302625) - p.Ala261Val (Ensembl:ENST00000302625) - c.782C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945196936 | 263 | L>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960607C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960607C>A Locations: - p.Leu263Ile (Ensembl:ENST00000302625) - c.787C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs747780319 | 264 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960610A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960610A>C Locations: - p.Thr264Pro (Ensembl:ENST00000302625) - c.790A>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 266 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960617T>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960617T>C Locations: - c.797T>C (NCI-TCGA:ENST00000302625) - p.L266P (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs772855228 | 268 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960622C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960622C>T Locations: - p.Leu268Phe (Ensembl:ENST00000302625) - c.802C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs772855228 | 268 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960622C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960622C>G Locations: - p.Leu268Val (Ensembl:ENST00000302625) - c.802C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs765974378 | 271 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960631T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960631T>C Locations: - p.Ser271Pro (Ensembl:ENST00000302625) - c.811T>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945197102 | 273 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.756) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960638T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960638T>C Locations: - p.Met273Thr (Ensembl:ENST00000302625) - c.818T>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945197076 | 273 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.584) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960637A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960637A>G Locations: - p.Met273Val (Ensembl:ENST00000302625) - c.817A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 276 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.662) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960648G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960648G>T Locations: - c.828G>T (NCI-TCGA:ENST00000302625) - p.E276D (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV56935639 | 276 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218960646G>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960646G>A Locations: - c.826G>A (NCI-TCGA:ENST00000302625) - p.E276K (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs765570302 | 285 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960673C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960673C>T Locations: - p.Leu285Phe (Ensembl:ENST00000302625) - c.853C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 286 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960676G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960676G>T Locations: - c.856G>T (NCI-TCGA:ENST00000302625) - p.V286L (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1945197318 | 287 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960680A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960680A>G Locations: - p.Glu287Gly (Ensembl:ENST00000302625) - c.860A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs950647365 | 288 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218960682C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960682C>G Locations: - p.Pro288Ala (Ensembl:ENST00000302625) - c.862C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1235580604 | 288 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960683C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960683C>T Locations: - p.Pro288Leu (Ensembl:ENST00000302625) - c.863C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1251248489 | 289 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000002.12:g.218960687C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960687C>G Locations: - p.Asp289Glu (Ensembl:ENST00000302625) - c.867C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945197383 | 289 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000002.12:g.218960686A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960686A>G Locations: - p.Asp289Gly (Ensembl:ENST00000302625) - c.866A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs753054357 | 292 | R>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.218960695G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960695G>C Locations: - p.Arg292Pro (Ensembl:ENST00000302625) - c.875G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1197011702 | 294 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.218960702G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960702G>A Locations: - p.Trp294Ter (Ensembl:ENST00000302625) - c.882G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945197502 | 297 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960709T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960709T>C Locations: - p.Cys297Arg (Ensembl:ENST00000302625) - c.889T>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs758578518 | 299 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.218960716G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960716G>A Locations: - p.Arg299His (Ensembl:ENST00000302625) - c.896G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs751649795 | 310 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000002.12:g.218960749G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960749G>A Locations: - p.Arg310Gln (Ensembl:ENST00000302625) - c.929G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1254588528 | 310 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960748C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960748C>T Locations: - p.Arg310Trp (Ensembl:ENST00000302625) - c.928C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 311 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.218960751C>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960751C>A Locations: - c.931C>A (NCI-TCGA:ENST00000302625) - p.L311I (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1224109169 | 312 | N>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960755A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960755A>C Locations: - p.Asn312Thr (Ensembl:ENST00000302625) - c.935A>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1378224151 | 315 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.218960763C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960763C>G Locations: - p.Pro315Ala (Ensembl:ENST00000302625) - c.943C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
TCGA novel | 316 | H>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000002.12:g.218960762del Consequence type: frameshift Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960762del Locations: - c.946del (NCI-TCGA:ENST00000302625) - p.H316Tfs*48 (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1169688812 | 316 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960766C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960766C>T Locations: - p.His316Tyr (Ensembl:ENST00000302625) - c.946C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1035266904 | 319 | T>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960776C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960776C>A Locations: - p.Thr319Lys (Ensembl:ENST00000302625) - c.956C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1035266904 | 319 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960776C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960776C>T Locations: - p.Thr319Met (Ensembl:ENST00000302625) - c.956C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1334026923 | 321 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.218960781G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960781G>A Locations: - p.Val321Ile (Ensembl:ENST00000302625) - c.961G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1397054519 | 324 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.218960790G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960790G>A Locations: - p.Asp324Asn (Ensembl:ENST00000302625) - c.970G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
COSV56937082 | 326 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.218960798G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960798G>T Locations: - c.978G>T (NCI-TCGA:ENST00000302625) - p.K326N (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs778606402 | 327 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.218960801C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960801C>G Locations: - p.Asn327Lys (Ensembl:ENST00000302625) - c.981C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs868760743 | 330 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.23) - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000002.12:g.218960808G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960808G>A Locations: - p.E330K (NCI-TCGA:ENST00000302625) - p.Glu330Lys (Ensembl:ENST00000302625) - c.988G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs367695844 | 331 | A>P | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000002.12:g.218960811G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960811G>C Locations: - p.Ala331Pro (Ensembl:ENST00000302625) - c.991G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs367695844 | 331 | A>T | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000002.12:g.218960811G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960811G>A Locations: - p.Ala331Thr (Ensembl:ENST00000302625) - c.991G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1160518249 | 331 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000002.12:g.218960812C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960812C>T Locations: - p.Ala331Val (Ensembl:ENST00000302625) - c.992C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1211367457 | 332 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000002.12:g.218960814G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960814G>C Locations: - p.Ala332Pro (Ensembl:ENST00000302625) - c.994G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1211367457 | 332 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.225) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000002.12:g.218960814G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960814G>T Locations: - p.Ala332Ser (Ensembl:ENST00000302625) - c.994G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs777626974 | 334 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000002.12:g.218960820A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960820A>G Locations: - p.Ser334Gly (Ensembl:ENST00000302625) - c.1000A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs573686875 | 334 | S>R | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000002.12:g.218960822C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960822C>A Locations: - p.Ser334Arg (Ensembl:ENST00000302625) - c.1002C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1259443857 | 335 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000002.12:g.218960824G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960824G>C Locations: - p.Gly335Ala (Ensembl:ENST00000302625) - c.1004G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs770604514 | 335 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000002.12:g.218960823G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960823G>A Locations: - p.Gly335Ser (Ensembl:ENST00000302625) - c.1003G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1315384291 | 336 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.218960827G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960827G>A Locations: - p.Gly336Glu (Ensembl:ENST00000302625) - c.1007G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1193882140 | 336 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.218960826G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960826G>C Locations: - p.Gly336Arg (Ensembl:ENST00000302625) - c.1006G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1163005520 | 338 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000002.12:g.218960832C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960832C>G Locations: - p.Pro338Ala (Ensembl:ENST00000302625) - c.1012C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945198922 | 339 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.88) Somatic: No Accession: NC_000002.12:g.218960835C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960835C>G Locations: - p.Pro339Ala (Ensembl:ENST00000302625) - c.1015C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945198945 | 339 | P>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: tolerated - low confidence (0.7) Somatic: No Accession: NC_000002.12:g.218960836C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960836C>A Locations: - p.Pro339Gln (Ensembl:ENST00000302625) - c.1016C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs537828749 | 340 | S>N | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated - low confidence (0.62) Somatic: No Accession: NC_000002.12:g.218960839G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960839G>A Locations: - p.Ser340Asn (Ensembl:ENST00000302625) - c.1019G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs759980879 | 340 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.218960840C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960840C>A Locations: - p.Ser340Arg (Ensembl:ENST00000302625) - c.1020C>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs537828749 | 340 | S>T | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.218960839G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960839G>C Locations: - p.Ser340Thr (Ensembl:ENST00000302625) - c.1019G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs557730496 | 341 | G>E | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.288) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000002.12:g.218960842G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960842G>A Locations: - p.Gly341Glu (Ensembl:ENST00000302625) - c.1022G>A (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1015166449 | 341 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000002.12:g.218960841G>C, NC_000002.12:g.218960841G>A Codon: GGG/CGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960841G>C, NC_000002.12:g.218960841G>A Locations: - p.Gly341Arg (Ensembl:ENST00000302625) - c.1021G>C (Ensembl:ENST00000302625) - c.1021G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1015166449 | 341 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.815) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.218960841G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960841G>T Locations: - p.Gly341Trp (Ensembl:ENST00000302625) - c.1021G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs575986166 | 342 | G>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.218960845G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960845G>C Locations: - p.Gly342Ala (Ensembl:ENST00000302625) - c.1025G>C (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs575986166 | 342 | G>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000002.12:g.218960845G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960845G>T Locations: - p.Gly342Val (Ensembl:ENST00000302625) - c.1025G>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs546412145 | 343 | A>E | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000002.12:g.218960848C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960848C>A Locations: - p.Ala343Glu (Ensembl:ENST00000302625) - c.1028C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945199196 | 344 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000002.12:g.218960850C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960850C>T Locations: - p.Pro344Ser (Ensembl:ENST00000302625) - c.1030C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1230951274 | 345 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000002.12:g.218960853G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960853G>C Locations: - p.Ala345Pro (Ensembl:ENST00000302625) - c.1033G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1230951274 | 345 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000002.12:g.218960853G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960853G>A Locations: - p.Ala345Thr (Ensembl:ENST00000302625) - c.1033G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs371832801 | 346 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.218960856G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960856G>T Locations: - p.Ala346Ser (Ensembl:ENST00000302625) - c.1036G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs764425228 | 347 | S>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.218960859T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960859T>G Locations: - p.Ser347Ala (Ensembl:ENST00000302625) - c.1039T>G (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1559430004 | 347 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.496) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000002.12:g.218960860C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960860C>T Locations: - p.Ser347Phe (Ensembl:ENST00000302625) - c.1040C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs751842167 | 348 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.218960863C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960863C>T Locations: - p.Ser348Leu (Ensembl:ENST00000302625) - c.1043C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
TCGA novel | 348 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000002.12:g.218960862T>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960862T>A Locations: - c.1042T>A (NCI-TCGA:ENST00000302625) - p.S348T (NCI-TCGA:ENST00000302625) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs751842167 | 348 | S>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.218960863C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960863C>G Locations: - p.Ser348Trp (Ensembl:ENST00000302625) - c.1043C>G (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1486731462 | 350 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000002.12:g.218960868G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960868G>A Locations: - p.Ala350Thr (Ensembl:ENST00000302625) - c.1048G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1183957083 | 350 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.218960869C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960869C>T Locations: - p.Ala350Val (Ensembl:ENST00000302625) - c.1049C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1051906964 | 352 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000002.12:g.218960876C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960876C>G Locations: - p.Asp352Glu (Ensembl:ENST00000302625) - c.1056C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1287473539 | 352 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000002.12:g.218960875A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960875A>G Locations: - p.Asp352Gly (Ensembl:ENST00000302625) - c.1055A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs2105999795 | 352 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.218960874G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960874G>T Locations: - p.Asp352Tyr (Ensembl:ENST00000302625) - c.1054G>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1256754957 | 353 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.709) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.218960877A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960877A>T Locations: - p.Ser353Cys (Ensembl:ENST00000302625) - c.1057A>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1485357493 | 354 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000002.12:g.218960881G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960881G>A Locations: - p.Cys354Tyr (Ensembl:ENST00000302625) - c.1061G>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs866296850 | 355 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000002.12:g.218960884C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960884C>T Locations: - p.Ala355Val (Ensembl:ENST00000302625) - c.1064C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1297200301 | 357 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.218960889G>C Codon: GGA/CGA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960889G>C Locations: - p.Gly357Arg (Ensembl:ENST00000302625) - c.1069G>C (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945199824 | 358 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.218960892A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960892A>G Locations: - p.Thr358Ala (Ensembl:ENST00000302625) - c.1072A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs762004607 | 358 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.33) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.218960893C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960893C>T Locations: - p.Thr358Ile (Ensembl:ENST00000302625) - c.1073C>T (Ensembl:ENST00000302625) Source type: large scale study | |||||||
rs1289947796 | 360 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000002.12:g.218960900C>A, NC_000002.12:g.218960900C>G Codon: CAC/CAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960900C>A, NC_000002.12:g.218960900C>G Locations: - p.His360Gln (Ensembl:ENST00000302625) - c.1080C>A (Ensembl:ENST00000302625) - c.1080C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1348436326 | 362 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.218960904A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960904A>G Locations: - p.Thr362Ala (Ensembl:ENST00000302625) - c.1084A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1945199934 | 362 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.218960905C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960905C>G Locations: - p.Thr362Ser (Ensembl:ENST00000302625) - c.1085C>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs767610910 | 363 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000002.12:g.218960907A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960907A>G Locations: - p.Met363Val (Ensembl:ENST00000302625) - c.1087A>G (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs201242914 | 366 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.218960918C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960918C>A Locations: - p.Asp366Glu (Ensembl:ENST00000302625) - c.1098C>A (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs1159731828 | 367 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.218960919C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960919C>T Locations: - p.Arg367Cys (Ensembl:ENST00000302625) - c.1099C>T (Ensembl:ENST00000302625) Source type: large scale study Cross-references: | |||||||
rs754879738 | 367 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.218960920G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.218960920G>T Locations: - p.Arg367Leu (Ensembl:ENST00000302625) - c.1100G>T (Ensembl:ENST00000302625) Source type: large scale study |