P33778 · H2B1B_HUMAN
- ProteinHistone H2B type 1-B
- GeneH2BC3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids126 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV100778222 rs757666983 | 1 | M>? | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | |||
Consequence: - Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000004411 (gnomAD) Accession: NC_000006.12:g.26043656A>G Consequence type: - Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043656A>G Locations: - c.2T>C (NCI-TCGA:ENST00000615966) - p.M1? (NCI-TCGA:ENST00000615966) Source type: large scale study | |||||||
rs764130486 | 2 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043653G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043653G>C Locations: - p.Pro2Arg (Ensembl:ENST00000615966) - c.5C>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs139386667 | 4 | P>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043648G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043648G>C Locations: - p.Pro4Ala (Ensembl:ENST00000615966) - c.10C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs139397968 | 4 | P>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.381) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043647G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043647G>T Locations: - p.Pro4His (Ensembl:ENST00000615966) - c.11C>A (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs139397968 | 4 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000006.12:g.26043647G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043647G>A Locations: - p.Pro4Leu (Ensembl:ENST00000615966) - c.11C>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs139386667 | 4 | P>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043648G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043648G>A Locations: - p.Pro4Ser (Ensembl:ENST00000615966) - c.10C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs372198960 | 5 | S>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043644G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043644G>C Locations: - p.Ser5Cys (Ensembl:ENST00000615966) - c.14C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs372198960 | 5 | S>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043644G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043644G>A Locations: - p.Ser5Phe (Ensembl:ENST00000615966) - c.14C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV100778281 COSV100778281,COSV63551413 COSV63551413 | 5 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000006.12:g.26043645A>T Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043645A>T Locations: - c.13T>A (NCI-TCGA:ENST00000615966) - p.S5T (NCI-TCGA:ENST00000615966) Source type: large scale study | |||||||
rs1761675174 | 6 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043642T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043642T>C Locations: - p.Lys6Glu (Ensembl:ENST00000615966) - c.16A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1238543536 | 6 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043640C>G, NC_000006.12:g.26043640C>A Codon: AAG/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043640C>G, NC_000006.12:g.26043640C>A Locations: - p.Lys6Asn (Ensembl:ENST00000615966) - c.18G>C (Ensembl:ENST00000615966) - c.18G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs773165770 | 7 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043638G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043638G>C Locations: - p.Ser7Cys (Ensembl:ENST00000615966) - c.20C>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs773165770 | 7 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.29) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043638G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043638G>A Locations: - p.Ser7Phe (Ensembl:ENST00000615966) - c.20C>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1761674935 | 8 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043636C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043636C>G Locations: - p.Ala8Pro (Ensembl:ENST00000615966) - c.22G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761674935 | 8 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043636C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043636C>A Locations: - p.Ala8Ser (Ensembl:ENST00000615966) - c.22G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1249764850 | 8 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000006.12:g.26043635G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043635G>A Locations: - p.Ala8Val (Ensembl:ENST00000615966) - c.23C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs771547734 | 9 | P>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000006.12:g.26043632G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043632G>A Locations: - p.Pro9Leu (Ensembl:ENST00000615966) - c.26C>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs999641372 | 9 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043633G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043633G>A Locations: - p.Pro9Ser (Ensembl:ENST00000615966) - c.25C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs748310697 | 10 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043630C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043630C>A Locations: - p.Ala10Ser (Ensembl:ENST00000615966) - c.28G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63550866 | 10 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000006.12:g.26043630C>T Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043630C>T Locations: - c.28G>A (NCI-TCGA:ENST00000615966) - p.A10T (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs778548350 | 10 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000006.12:g.26043629G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043629G>A Locations: - p.Ala10Val (Ensembl:ENST00000615966) - c.29C>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1444874700 | 11 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043626G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043626G>A Locations: - p.Pro11Leu (Ensembl:ENST00000615966) - c.32C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1159578370 | 12 | K>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043623T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043623T>A Locations: - p.Lys12Ile (Ensembl:ENST00000615966) - c.35A>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761674378 | 13 | K>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043620T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043620T>A Locations: - p.Lys13Met (Ensembl:ENST00000615966) - c.38A>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761674309 | 13 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043619C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043619C>G Locations: - p.Lys13Asn (Ensembl:ENST00000615966) - c.39G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761674378 | 13 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043620T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043620T>G Locations: - p.Lys13Thr (Ensembl:ENST00000615966) - c.38A>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1180589631 | 14 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043618C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043618C>A Locations: - p.Gly14Cys (Ensembl:ENST00000615966) - c.40G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV100778310 rs1180589631 | 14 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000006.12:g.26043618C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043618C>G Locations: - p.G14R (NCI-TCGA:ENST00000615966) - p.Gly14Arg (Ensembl:ENST00000615966) - c.40G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1180589631 | 14 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043618C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043618C>T Locations: - p.Gly14Ser (Ensembl:ENST00000615966) - c.40G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63551480 rs1561922655 | 15 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated - low confidence (0.19) - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043614G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043614G>A Locations: - p.S15F (NCI-TCGA:ENST00000615966) - p.Ser15Phe (Ensembl:ENST00000615966) - c.44C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1363108033 | 15 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043615A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043615A>G Locations: - p.Ser15Pro (Ensembl:ENST00000615966) - c.43T>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63551480 | 15 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated - low confidence (0.07) Somatic: Yes Accession: NC_000006.12:g.26043614G>T Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043614G>T Locations: - c.44C>A (NCI-TCGA:ENST00000615966) - p.S15Y (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761674007 | 16 | K>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.26043612T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043612T>A Locations: - p.Lys16Ter (Ensembl:ENST00000615966) - c.46A>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs781490038 | 16 | K>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043611T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043611T>A Locations: - p.Lys16Met (Ensembl:ENST00000615966) - c.47A>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs781490038 | 16 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043611T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043611T>C Locations: - p.Lys16Arg (Ensembl:ENST00000615966) - c.47A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1561922651 | 17 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043609T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043609T>C Locations: - p.Lys17Glu (Ensembl:ENST00000615966) - c.49A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs779161052 | 18 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043606C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043606C>T Locations: - p.Ala18Thr (Ensembl:ENST00000615966) - c.52G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs200869185 | 18 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043605G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043605G>A Locations: - p.Ala18Val (Ensembl:ENST00000615966) - c.53C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1302716211 | 19 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043602A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043602A>T Locations: - p.Ile19Asn (Ensembl:ENST00000615966) - c.56T>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1302716211 | 19 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043602A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043602A>G Locations: - p.Ile19Thr (Ensembl:ENST00000615966) - c.56T>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs151259814 | 19 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000006.12:g.26043603T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043603T>C Locations: - p.Ile19Val (Ensembl:ENST00000615966) - c.55A>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs764661719 | 20 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043599G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043599G>A Locations: - p.Thr20Ile (Ensembl:ENST00000615966) - c.59C>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs764661719 | 20 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000006.12:g.26043599G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043599G>C Locations: - p.Thr20Ser (Ensembl:ENST00000615966) - c.59C>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1393453148 | 21 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043597T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043597T>C Locations: - p.Lys21Glu (Ensembl:ENST00000615966) - c.61A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63551252 | 21 | K>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000006.12:g.26043596T>A Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043596T>A Locations: - c.62A>T (NCI-TCGA:ENST00000615966) - p.K21M (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs765585164 | 22 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000006.12:g.26043594C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043594C>T Locations: - p.Ala22Thr (Ensembl:ENST00000615966) - c.64G>A (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs759780461 | 22 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000006.12:g.26043593G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043593G>A Locations: - p.Ala22Val (Ensembl:ENST00000615966) - c.65C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1363093884 | 23 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.26043591G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043591G>A Locations: - p.Gln23Ter (Ensembl:ENST00000615966) - c.67C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs776966855 | 23 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043589C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043589C>A Locations: - p.Gln23His (Ensembl:ENST00000615966) - c.69G>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1237492466 | 23 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.752) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043590T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043590T>A Locations: - p.Gln23Leu (Ensembl:ENST00000615966) - c.68A>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1237492466 | 23 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043590T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043590T>G Locations: - p.Gln23Pro (Ensembl:ENST00000615966) - c.68A>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63550971 | 24 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000006.12:g.26043586C>A Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043586C>A Locations: - c.72G>T (NCI-TCGA:ENST00000615966) - p.K24N (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1490837268 | 25 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043585T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043585T>C Locations: - p.Lys25Glu (Ensembl:ENST00000615966) - c.73A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs760513217 | 25 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.272) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043583C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043583C>G Locations: - p.Lys25Asn (Ensembl:ENST00000615966) - c.75G>C (Ensembl:ENST00000615966) Source type: large scale study | |||||||
COSV100778316 | 25 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000006.12:g.26043584T>C Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043584T>C Locations: - c.74A>G (NCI-TCGA:ENST00000615966) - p.K25R (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs199714846 | 26 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043581T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043581T>A Locations: - p.Asp26Val (Ensembl:ENST00000615966) - c.77A>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1177526745 | 27 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000006.12:g.26043578C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043578C>T Locations: - p.Gly27Asp (Ensembl:ENST00000615966) - c.80G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1481422360 | 27 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043579C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043579C>T Locations: - p.Gly27Ser (Ensembl:ENST00000615966) - c.79G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV100778234 COSV100778234,COSV100778329 COSV100778329 rs1014522036 | 28 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: deleterious - low confidence (0) - PolyPhen: benign (0.304) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043574C>A, NC_000006.12:g.26043574C>G Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043574C>A, NC_000006.12:g.26043574C>G Locations: - c.84G>T (NCI-TCGA:ENST00000615966) - p.K28N (NCI-TCGA:ENST00000615966) - p.Lys28Asn (Ensembl:ENST00000615966) - c.84G>C (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs368020868 | 28 | K>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000006.12:g.26043575T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043575T>C Locations: - p.Lys28Arg (Ensembl:ENST00000615966) - c.83A>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs761315898 | 30 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043570G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043570G>A Locations: - p.Arg30Cys (Ensembl:ENST00000615966) - c.88C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1279423547 | 31 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043565C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043565C>G Locations: - p.Lys31Asn (Ensembl:ENST00000615966) - c.93G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs773812336 | 32 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043564G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043564G>A Locations: - p.Arg32Cys (Ensembl:ENST00000615966) - c.94C>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs773812336 | 32 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043564G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043564G>C Locations: - p.Arg32Gly (Ensembl:ENST00000615966) - c.94C>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1351751702 | 32 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043563C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043563C>T Locations: - p.Arg32His (Ensembl:ENST00000615966) - c.95G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs748989913 | 33 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.792) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043560C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043560C>A Locations: - p.Ser33Ile (Ensembl:ENST00000615966) - c.98G>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs748989913 | 33 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000006.12:g.26043560C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043560C>G Locations: - p.Ser33Thr (Ensembl:ENST00000615966) - c.98G>C (Ensembl:ENST00000615966) Source type: large scale study | |||||||
TCGA novel | 34 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000006.12:g.26043558G>A Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043558G>A Locations: - c.100C>T (NCI-TCGA:ENST00000615966) - p.R34C (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV63551659 | 34 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.1) Somatic: Yes Accession: NC_000006.12:g.26043557C>T Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043557C>T Locations: - c.101G>A (NCI-TCGA:ENST00000615966) - p.R34H (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs779650601 | 34 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043558G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043558G>T Locations: - p.Arg34Ser (Ensembl:ENST00000615966) - c.100C>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1398683060 | 35 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043554T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043554T>C Locations: - p.Lys35Arg (Ensembl:ENST00000615966) - c.104A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs747391525 COSV100778267 | 36 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC gnomAD NCI-TCGA Cosmic dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0.02) - PolyPhen: benign (0.088) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043550C>G, NC_000006.12:g.26043550C>A Codon: GAG/GAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043550C>G, NC_000006.12:g.26043550C>A Locations: - p.Glu36Asp (Ensembl:ENST00000615966) - c.108G>C (Ensembl:ENST00000615966) - p.E36D (NCI-TCGA:ENST00000615966) - c.108G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761671360 | 36 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043551T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043551T>C Locations: - p.Glu36Gly (Ensembl:ENST00000615966) - c.107A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63551027 | 36 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000006.12:g.26043552C>T Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043552C>T Locations: - c.106G>A (NCI-TCGA:ENST00000615966) - p.E36K (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1299011262 | 37 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043549T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043549T>C Locations: - p.Ser37Gly (Ensembl:ENST00000615966) - c.109A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63550870 | 37 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000006.12:g.26043548C>A Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043548C>A Locations: - c.110G>T (NCI-TCGA:ENST00000615966) - p.S37I (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63550870 rs778158634 | 37 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.04) - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000006.12:g.26043548C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043548C>T Locations: - p.S37N (NCI-TCGA:ENST00000615966) - p.Ser37Asn (Ensembl:ENST00000615966) - c.110G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1056448275 | 37 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: deleterious - low confidence (0) - PolyPhen: possibly damaging (0.729) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043547G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043547G>C Locations: - p.S37R (NCI-TCGA:ENST00000615966) - p.Ser37Arg (Ensembl:ENST00000615966) - c.111C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1390093252 | 38 | Y>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.26043544A>C Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043544A>C Locations: - p.Tyr38Ter (Ensembl:ENST00000615966) - c.114T>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs767811340 | 38 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.26043545dup Codon: TAT/TAAT Consequence type: stop gained Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043545dup Locations: - p.Tyr38Ter (Ensembl:ENST00000615966) - c.113dup (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs758876516 | 38 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.282) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043545T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043545T>C Locations: - p.Tyr38Cys (Ensembl:ENST00000615966) - c.113A>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs758876516 | 38 | Y>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.821) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043545T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043545T>A Locations: - p.Tyr38Phe (Ensembl:ENST00000615966) - c.113A>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs752844404 | 39 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043542G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043542G>C Locations: - p.Ser39Cys (Ensembl:ENST00000615966) - c.116C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs752844404 | 39 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043542G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043542G>A Locations: - p.Ser39Phe (Ensembl:ENST00000615966) - c.116C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs755073705 | 40 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000006.12:g.26043538G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043538G>C Locations: - p.Ile40Met (Ensembl:ENST00000615966) - c.120C>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1561922561 | 42 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043534C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043534C>G Locations: - p.Val42Leu (Ensembl:ENST00000615966) - c.124G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs201616602 | 44 | K>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043527T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043527T>C Locations: - p.Lys44Arg (Ensembl:ENST00000615966) - c.131A>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs12663349 | 45 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043524A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043524A>C Locations: - p.Val45Gly (Ensembl:ENST00000615966) - c.134T>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1281968074 | 45 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043525C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043525C>T Locations: - p.Val45Ile (Ensembl:ENST00000615966) - c.133G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs760399920 | 46 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043521A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043521A>G Locations: - p.Leu46Pro (Ensembl:ENST00000615966) - c.137T>C (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1271490473 | 47 | K>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.26043519T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043519T>A Locations: - p.Lys47Ter (Ensembl:ENST00000615966) - c.139A>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs750164760 | 47 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043517C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043517C>A Locations: - p.Lys47Asn (Ensembl:ENST00000615966) - c.141G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs767385566 | 48 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.26043516G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043516G>A Locations: - p.Gln48Ter (Ensembl:ENST00000615966) - c.142C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV100778297 | 49 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000006.12:g.26043512A>G Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043512A>G Locations: - c.146T>C (NCI-TCGA:ENST00000615966) - p.V49A (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1243631181 | 49 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043513C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043513C>T Locations: - p.Val49Ile (Ensembl:ENST00000615966) - c.145G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1403764043 | 50 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043510G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043510G>A Locations: - p.His50Tyr (Ensembl:ENST00000615966) - c.148C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1761669692 | 51 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0.02) - PolyPhen: benign (0.184) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043507G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043507G>A Locations: - p.P51S (NCI-TCGA:ENST00000615966) - p.Pro51Ser (Ensembl:ENST00000615966) - c.151C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1761669504 | 52 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043503T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043503T>G Locations: - p.Asp52Ala (Ensembl:ENST00000615966) - c.155A>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1443969204 | 53 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043501T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043501T>C Locations: - p.Thr53Ala (Ensembl:ENST00000615966) - c.157A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761669073 | 54 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043497C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043497C>G Locations: - p.Gly54Ala (Ensembl:ENST00000615966) - c.161G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs774770463 | 54 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043498C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043498C>A Locations: - p.Gly54Cys (Ensembl:ENST00000615966) - c.160G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs774770463 | 54 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043498C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043498C>T Locations: - p.Gly54Ser (Ensembl:ENST00000615966) - c.160G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1231620716 | 55 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.379) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043494A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043494A>G Locations: - p.Ile55Thr (Ensembl:ENST00000615966) - c.164T>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1581638662 | 57 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043488G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043488G>A Locations: - p.Ser57Phe (Ensembl:ENST00000615966) - c.170C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63551093 | 57 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000006.12:g.26043489A>T Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043489A>T Locations: - c.169T>A (NCI-TCGA:ENST00000615966) - p.S57T (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1581638662 | 57 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043488G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043488G>T Locations: - p.Ser57Tyr (Ensembl:ENST00000615966) - c.170C>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1462942895 | 59 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043482G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043482G>C Locations: - p.Ala59Gly (Ensembl:ENST00000615966) - c.176C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1462942895 | 59 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043482G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043482G>A Locations: - p.Ala59Val (Ensembl:ENST00000615966) - c.176C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761668201 | 61 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043476C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043476C>T Locations: - p.Gly61Glu (Ensembl:ENST00000615966) - c.182G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs778146944 | 61 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043477C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043477C>T Locations: - p.Gly61Arg (Ensembl:ENST00000615966) - c.181G>A (Ensembl:ENST00000615966) Source type: large scale study | |||||||
TCGA novel | 61-63 | GIM>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: inframe deletion Somatic: No Accession: NC_000006.12:g.26043469_26043477del Consequence type: inframe deletion Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043469_26043477del Locations: - c.181_189del (NCI-TCGA:ENST00000615966) - p.G61_M63del (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1212342410 COSV63551297 rs1212342410,COSV63551297 | 63 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed gnomAD NCI-TCGA Cosmic dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000006.12:g.26043469C>A, NC_000006.12:g.26043469C>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043469C>A, NC_000006.12:g.26043469C>T Locations: - p.Met63Ile (Ensembl:ENST00000615966) - c.189G>T (Ensembl:ENST00000615966) - p.M63I (NCI-TCGA:ENST00000615966) - c.189G>A (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs180934723 | 63 | M>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043471T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043471T>C Locations: - p.Met63Val (Ensembl:ENST00000615966) - c.187A>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1338289532 | 64 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043468T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043468T>C Locations: - p.Asn64Asp (Ensembl:ENST00000615966) - c.190A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1315347854 | 64 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043467T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043467T>C Locations: - p.Asn64Ser (Ensembl:ENST00000615966) - c.191A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs753910669 | 65 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043464G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043464G>A Locations: - p.Ser65Phe (Ensembl:ENST00000615966) - c.194C>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs753910669 | 65 | S>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043464G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043464G>T Locations: - p.Ser65Tyr (Ensembl:ENST00000615966) - c.194C>A (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1761667785 | 66 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043462A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043462A>G Locations: - p.Phe66Leu (Ensembl:ENST00000615966) - c.196T>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs566958517 | 67 | V>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000006.12:g.26043459C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043459C>T Locations: - p.Val67Ile (Ensembl:ENST00000615966) - c.199G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs566958517 | 67 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043459C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043459C>G Locations: - p.Val67Leu (Ensembl:ENST00000615966) - c.199G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs750208563 | 68 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043456T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043456T>C Locations: - p.Asn68Asp (Ensembl:ENST00000615966) - c.202A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1049647748 | 68 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043454G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043454G>T Locations: - p.Asn68Lys (Ensembl:ENST00000615966) - c.204C>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs767395554 | 68 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043455T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043455T>C Locations: - p.Asn68Ser (Ensembl:ENST00000615966) - c.203A>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1294341694 | 69 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043453C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043453C>G Locations: - p.Asp69His (Ensembl:ENST00000615966) - c.205G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1294341694 | 69 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043453C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043453C>T Locations: - p.Asp69Asn (Ensembl:ENST00000615966) - c.205G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs144272993 | 70 | I>V | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.476) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043450T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043450T>C Locations: - p.Ile70Val (Ensembl:ENST00000615966) - c.208A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs762465445 | 72 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043442C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043442C>A Locations: - p.Glu72Asp (Ensembl:ENST00000615966) - c.216G>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
COSV100778320 COSV100778320,COSV63550856 COSV63550856 | 72 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000006.12:g.26043444C>T Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043444C>T Locations: - c.214G>A (NCI-TCGA:ENST00000615966) - p.E72K (NCI-TCGA:ENST00000615966) Source type: large scale study | |||||||
COSV100778320 COSV100778320,COSV63550856 COSV63550856 | 72 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000006.12:g.26043444C>G Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043444C>G Locations: - c.214G>C (NCI-TCGA:ENST00000615966) - p.E72Q (NCI-TCGA:ENST00000615966) Source type: large scale study | |||||||
COSV63550748 rs775001760 | 73 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.11) - PolyPhen: benign (0.104) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043441G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043441G>A Locations: - p.R73C (NCI-TCGA:ENST00000615966) - p.Arg73Cys (Ensembl:ENST00000615966) - c.217C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs775001760 | 73 | R>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043441G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043441G>C Locations: - p.Arg73Gly (Ensembl:ENST00000615966) - c.217C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761664518 | 73 | R>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.536) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043440C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043440C>A Locations: - p.Arg73Leu (Ensembl:ENST00000615966) - c.218G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs764833010 | 74 | I>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043437A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043437A>T Locations: - p.Ile74Asn (Ensembl:ENST00000615966) - c.221T>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV100778299 | 75 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000006.12:g.26043434G>A Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043434G>A Locations: - c.224C>T (NCI-TCGA:ENST00000615966) - p.A75V (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1481234738 | 76 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043431C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043431C>G Locations: - p.Gly76Ala (Ensembl:ENST00000615966) - c.227G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs921903749 | 78 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043426C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043426C>T Locations: - p.Ala78Thr (Ensembl:ENST00000615966) - c.232G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761664267 | 79 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043423A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043423A>G Locations: - p.Ser79Pro (Ensembl:ENST00000615966) - c.235T>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1052949437 | 80 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043420G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043420G>A Locations: - p.Arg80Cys (Ensembl:ENST00000615966) - c.238C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs776112468 | 80 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043419C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043419C>T Locations: - p.Arg80His (Ensembl:ENST00000615966) - c.239G>A (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs776112468 | 80 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043419C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043419C>A Locations: - p.Arg80Leu (Ensembl:ENST00000615966) - c.239G>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs776112468 | 80 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043419C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043419C>G Locations: - p.Arg80Pro (Ensembl:ENST00000615966) - c.239G>C (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1761664034 | 81 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043417G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043417G>C Locations: - p.Leu81Val (Ensembl:ENST00000615966) - c.241C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
TCGA novel rs772628669 | 82 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.689) - SIFT: deleterious - low confidence (0.03) - PolyPhen: benign (0.436) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043414C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043414C>A Locations: - p.A82S (NCI-TCGA:ENST00000615966) - p.Ala82Ser (Ensembl:ENST00000615966) - c.244G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs772628669 | 82 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.363) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043414C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043414C>T Locations: - p.Ala82Thr (Ensembl:ENST00000615966) - c.244G>A (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs145254404 | 83 | H>N | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043411G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043411G>T Locations: - p.His83Asn (Ensembl:ENST00000615966) - c.247C>A (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs145254404 | 83 | H>Y | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043411G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043411G>A Locations: - p.His83Tyr (Ensembl:ENST00000615966) - c.247C>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs199902704 | 84 | Y>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043407T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043407T>C Locations: - p.Tyr84Cys (Ensembl:ENST00000615966) - c.251A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1224176541 | 84 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043408A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043408A>G Locations: - p.Tyr84His (Ensembl:ENST00000615966) - c.250T>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs925685844 | 85 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043404T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043404T>C Locations: - p.Asn85Ser (Ensembl:ENST00000615966) - c.254A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs775010729 | 85 | N>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043405T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043405T>A Locations: - p.Asn85Tyr (Ensembl:ENST00000615966) - c.253A>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
TCGA novel | 87 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000006.12:g.26043399G>A Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043399G>A Locations: - c.259C>T (NCI-TCGA:ENST00000615966) - p.R87C (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1370018833 | 87 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043399G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043399G>C Locations: - p.Arg87Gly (Ensembl:ENST00000615966) - c.259C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1303911859 | 87 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043398C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043398C>G Locations: - p.Arg87Pro (Ensembl:ENST00000615966) - c.260G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs965741692 | 88 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043395G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043395G>A Locations: - p.Ser88Leu (Ensembl:ENST00000615966) - c.263C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761663549 | 88 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.8) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000006.12:g.26043396A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043396A>G Locations: - p.Ser88Pro (Ensembl:ENST00000615966) - c.262T>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs965741692 | 88 | S>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043395G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043395G>C Locations: - p.Ser88Trp (Ensembl:ENST00000615966) - c.263C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1581638555 | 91 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043387T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043387T>G Locations: - p.Thr91Pro (Ensembl:ENST00000615966) - c.271A>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs2113688376 | 93 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043380C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043380C>T Locations: - p.Arg93Lys (Ensembl:ENST00000615966) - c.278G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
TCGA novel | 93 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000006.12:g.26043381T>A Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043381T>A Locations: - c.277A>T (NCI-TCGA:ENST00000615966) - p.R93W (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV63551544 | 94 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000006.12:g.26043376C>G Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043376C>G Locations: - c.282G>C (NCI-TCGA:ENST00000615966) - p.E94D (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1175998740 | 94 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.696) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043378C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043378C>T Locations: - p.Glu94Lys (Ensembl:ENST00000615966) - c.280G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1174893084 | 96 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.26043372G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043372G>A Locations: - p.Gln96Ter (Ensembl:ENST00000615966) - c.286C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1174893084 | 96 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.609) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043372G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043372G>C Locations: - p.Gln96Glu (Ensembl:ENST00000615966) - c.286C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761663124 | 97 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043369T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043369T>C Locations: - p.Thr97Ala (Ensembl:ENST00000615966) - c.289A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63551146 rs756126649 | 97 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0.02) - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000006.12:g.26043368G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043368G>A Locations: - p.T97M (NCI-TCGA:ENST00000615966) - p.Thr97Met (Ensembl:ENST00000615966) - c.290C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV100778326 | 98 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious - low confidence (0.05) Somatic: Yes Accession: NC_000006.12:g.26043366C>A Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043366C>A Locations: - c.292G>T (NCI-TCGA:ENST00000615966) - p.A98S (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761663002 | 98 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043366C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043366C>T Locations: - p.Ala98Thr (Ensembl:ENST00000615966) - c.292G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63551161 | 100 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Accession: NC_000006.12:g.26043360G>A Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043360G>A Locations: - c.298C>T (NCI-TCGA:ENST00000615966) - p.R100C (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs2113688341 | 100 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043359C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043359C>A Locations: - p.Arg100Leu (Ensembl:ENST00000615966) - c.299G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1287818395 | 102 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043354G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043354G>T Locations: - p.Leu102Met (Ensembl:ENST00000615966) - c.304C>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs764026122 | 104 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.724) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043348G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043348G>C Locations: - p.Pro104Ala (Ensembl:ENST00000615966) - c.310C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs758295540 | 104 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043347G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043347G>A Locations: - p.Pro104Leu (Ensembl:ENST00000615966) - c.311C>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs752550913 | 105 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043344C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043344C>T Locations: - p.Gly105Glu (Ensembl:ENST00000615966) - c.314G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761662502 | 107 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043338A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043338A>G Locations: - p.Leu107Pro (Ensembl:ENST00000615966) - c.320T>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
TCGA novel | 108 | A>missing | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000006.12:g.26043336del Consequence type: frameshift Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043336del Locations: - c.322del (NCI-TCGA:ENST00000615966) - p.A108Lfs*? (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1283979017 | 108 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043335G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043335G>A Locations: - p.Ala108Val (Ensembl:ENST00000615966) - c.323C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1283594310 | 109 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043331C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043331C>A Locations: - p.Lys109Asn (Ensembl:ENST00000615966) - c.327G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1322556445 | 110 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.168) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043330G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043330G>A Locations: - p.His110Tyr (Ensembl:ENST00000615966) - c.328C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1406871808 | 111 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000003986 (gnomAD) Accession: NC_000006.12:g.26043326G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043326G>A Locations: - p.A111V (NCI-TCGA:ENST00000615966) - p.Ala111Val (Ensembl:ENST00000615966) - c.332C>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs764839628 | 112 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000006.12:g.26043324C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043324C>T Locations: - p.Val112Met (Ensembl:ENST00000615966) - c.334G>A (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs201428303 | 114 | E>D | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043316C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043316C>G Locations: - p.Glu114Asp (Ensembl:ENST00000615966) - c.342G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63551149 | 114 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: Yes Accession: NC_000006.12:g.26043318C>T Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043318C>T Locations: - c.340G>A (NCI-TCGA:ENST00000615966) - p.E114K (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs753944411 | 115 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043315C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043315C>T Locations: - p.Gly115Ser (Ensembl:ENST00000615966) - c.343G>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1286189865 | 116 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.596) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043312T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043312T>C Locations: - p.Thr116Ala (Ensembl:ENST00000615966) - c.346A>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1286189865 | 116 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.707) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043312T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043312T>A Locations: - p.Thr116Ser (Ensembl:ENST00000615966) - c.346A>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1472530687 | 118 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043306C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043306C>A Locations: - p.Ala118Ser (Ensembl:ENST00000615966) - c.352G>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1430669430 | 120 | T>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043299G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043299G>T Locations: - p.Thr120Asn (Ensembl:ENST00000615966) - c.359C>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63551541 rs967821869 | 121 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious - low confidence (0) - PolyPhen: benign (0.106) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043295C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043295C>G Locations: - p.K121N (NCI-TCGA:ENST00000615966) - p.Lys121Asn (Ensembl:ENST00000615966) - c.363G>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
COSV63550943 | 122 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000006.12:g.26043293T>C Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043293T>C Locations: - c.365A>G (NCI-TCGA:ENST00000615966) - p.Y122C (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1266161609 | 123 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.509) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043290G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043290G>C Locations: - p.Thr123Ser (Ensembl:ENST00000615966) - c.368C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1205342701 | 124 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043288T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043288T>A Locations: - p.Ser124Cys (Ensembl:ENST00000615966) - c.370A>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs769308092 | 124 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043287C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043287C>A Locations: - p.Ser124Ile (Ensembl:ENST00000615966) - c.371G>T (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs769308092 | 124 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043287C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043287C>T Locations: - p.Ser124Asn (Ensembl:ENST00000615966) - c.371G>A (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs769308092 | 124 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043287C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043287C>G Locations: - p.Ser124Thr (Ensembl:ENST00000615966) - c.371G>C (Ensembl:ENST00000615966) Source type: large scale study | |||||||
rs1761661239 | 125 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043284G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043284G>C Locations: - p.Ser125Cys (Ensembl:ENST00000615966) - c.374C>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761661239 | 125 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000006.12:g.26043284G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043284G>A Locations: - p.Ser125Phe (Ensembl:ENST00000615966) - c.374C>T (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1761661239 | 125 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043284G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043284G>T Locations: - p.Ser125Tyr (Ensembl:ENST00000615966) - c.374C>A (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs749850748 | 126 | K>E | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.253) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043282T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043282T>C Locations: - p.Lys126Glu (Ensembl:ENST00000615966) - c.376A>G (Ensembl:ENST00000615966) Source type: large scale study | |||||||
TCGA novel | 126 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.553) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.26043281T>G Consequence type: missense Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043281T>G Locations: - c.377A>C (NCI-TCGA:ENST00000615966) - p.K126T (NCI-TCGA:ENST00000615966) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1761660345 | 127 | *>E | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000006.12:g.26043279A>C Codon: TAA/GAA Consequence type: stop lost Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043279A>C Locations: - p.Ter127GluextTer4 (Ensembl:ENST00000615966) - c.379T>G (Ensembl:ENST00000615966) Source type: large scale study Cross-references: | |||||||
rs1011792603 | 127 | *>S | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000006.12:g.26043278T>G Codon: TAA/TCA Consequence type: stop lost Cytogenetic band: 6p22.2 Genomic location: NC_000006.12:g.26043278T>G Locations: - p.Ter127SerextTer4 (Ensembl:ENST00000615966) - c.380A>C (Ensembl:ENST00000615966) Source type: large scale study Cross-references: |