X6R8P6 · X6R8P6_HUMAN
- ProteinSOSS complex subunit C
- GeneINIP
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1837997130 | 4 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.112694159G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112694159G>A Locations: - p.Gln4Ter (Ensembl:ENST00000374236) - c.10C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1254179063 | 4 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.228) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.112694157C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112694157C>G Locations: - p.Gln4His (Ensembl:ENST00000374236) - c.12G>C (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954151 | 6 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112694152G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112694152G>A Locations: - p.Ser6Leu (cosmic curated:ENST00000374236) - c.17C>T (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1423116373 | 7 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.112694149G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112694149G>A Locations: - p.Thr7Ile (Ensembl:ENST00000374236) - c.20C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs748457885 COSV65295880 | 8 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD NCI-TCGA Cosmic cosmic curated | ||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.112694145A>T, NC_000009.12:g.112694145A>C Codon: AAT/AAA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112694145A>T, NC_000009.12:g.112694145A>C Locations: - p.Asn8Lys (Ensembl:ENST00000374236) - c.24T>A (Ensembl:ENST00000374236) - p.N8K (NCI-TCGA:ENST00000374236) - p.Asn8Lys (cosmic curated:ENST00000374236) - c.24T>G (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs972665846 | 9 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.112694144G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112694144G>A Locations: - p.His9Tyr (Ensembl:ENST00000374236) - c.25C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs775311670 | 10 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000009.12:g.112694141G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112694141G>A Locations: - p.Pro10Ser (Ensembl:ENST00000374236) - c.28C>T (Ensembl:ENST00000374236) Source type: large scale study | |||||||
rs199633346 | 11 | G>R | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.112694138C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112694138C>T Locations: - p.Gly11Arg (Ensembl:ENST00000374236) - c.31G>A (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1251945615 | 12 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.112694135C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112694135C>T Locations: - p.Ala12Thr (Ensembl:ENST00000374236) - c.34G>A (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1196055946 | 12 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.112694134G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112694134G>A Locations: - p.Ala12Val (Ensembl:ENST00000374236) - c.35C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs755937216 | 14 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.112689616T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689616T>G Locations: - p.Ile14Leu (Ensembl:ENST00000374236) - c.40A>C (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1420434599 | 14 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.112689615A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689615A>G Locations: - p.Ile14Thr (Ensembl:ENST00000374236) - c.41T>C (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV65295390 | 15 | A>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112689613C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112689613C>G Locations: - p.Ala15Pro (cosmic curated:ENST00000374236) - c.43G>C (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV65295924 rs1247992378 | 15 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.05) Somatic: Yes Population frequencies: - MAF: 0.000003979 (gnomAD) Accession: NC_000009.12:g.112689612G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689612G>A Locations: - p.A15V (NCI-TCGA:ENST00000374236) - p.Ala15Val (Ensembl:ENST00000374236) - c.44C>T (Ensembl:ENST00000374236) Source type: large scale study | |||||||
rs1837806311 | 16 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.112689610G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689610G>A Locations: - p.Leu16Phe (Ensembl:ENST00000374236) - c.46C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs755164675 | 17 | S>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.112689606G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689606G>T Locations: - p.Ser17Ter (Ensembl:ENST00000374236) - c.50C>A (Ensembl:ENST00000374236) Source type: large scale study | |||||||
COSV65295758 rs755164675 rs755164675,COSV65295758 | 17 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.07) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000009.12:g.112689606G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689606G>A Locations: - p.S17L (NCI-TCGA:ENST00000374236) - p.Ser17Leu (Ensembl:ENST00000374236) - c.50C>T (Ensembl:ENST00000374236) Source type: large scale study | |||||||
COSV65295258 | 18 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112689603C>A Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689603C>A Locations: - p.R18I (NCI-TCGA:ENST00000374236) - p.Arg18Ile (cosmic curated:ENST00000374236) - c.53G>T (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs955410476 | 18 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000009.12:g.112689603C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689603C>T Locations: - p.Arg18Lys (Ensembl:ENST00000374236) - c.53G>A (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs955410476 | 18 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.112689603C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689603C>G Locations: - p.Arg18Thr (Ensembl:ENST00000374236) - c.53G>C (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs766469394 | 19 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.112689601G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689601G>T Locations: - p.Pro19Thr (Ensembl:ENST00000374236) - c.55C>A (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs762884925 | 20 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.112689597G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689597G>C Locations: - p.Ser20Cys (Ensembl:ENST00000374236) - c.59C>G (Ensembl:ENST00000374236) Source type: large scale study | |||||||
rs765798713 | 21 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.112689595G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689595G>T Locations: - p.Leu21Ile (Ensembl:ENST00000374236) - c.61C>A (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1305162980 | 22 | N>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.112689592T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689592T>G Locations: - p.Asn22His (Ensembl:ENST00000374236) - c.64A>C (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1837804323 | 22 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000009.12:g.112689591T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689591T>C Locations: - p.Asn22Ser (Ensembl:ENST00000374236) - c.65A>G (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs199536195 | 23 | K>E | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.112689589T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689589T>C Locations: - p.Lys23Glu (Ensembl:ENST00000374236) - c.67A>G (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs199536195 | 23 | K>Q | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.112689589T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689589T>G Locations: - p.Lys23Gln (Ensembl:ENST00000374236) - c.67A>C (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV104684432 rs1376185205 | 26 | R>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000009.12:g.112689579C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689579C>T Locations: - p.Arg26Gln (Ensembl:ENST00000374236) - c.77G>A (Ensembl:ENST00000374236) Source type: large scale study | |||||||
rs762288543 | 26 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.000007955 (gnomAD) Accession: NC_000009.12:g.112689580G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689580G>A Locations: - p.R26W (NCI-TCGA:ENST00000374236) - p.Arg26Trp (Ensembl:ENST00000374236) - c.76C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV107479062 | 29 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112689570G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112689570G>T Locations: - p.Ala29Asp (cosmic curated:ENST00000374236) - c.86C>A (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954112 | 29 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112689571C>A Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689571C>A Locations: - p.A29S (NCI-TCGA:ENST00000374236) - p.Ala29Ser (cosmic curated:ENST00000374236) - c.85G>T (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954112 COSV100954138 rs376380195 | 29 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: tolerated (0.21) Somatic: Yes Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000009.12:g.112689571C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689571C>T Locations: - p.A29T (NCI-TCGA:ENST00000374236) - p.Ala29Thr (Ensembl:ENST00000374236) - c.85G>A (Ensembl:ENST00000374236) Source type: large scale study | |||||||
rs373179238 | 30 | E>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.112689568C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689568C>A Locations: - p.Glu30Ter (Ensembl:ENST00000374236) - c.88G>T (Ensembl:ENST00000374236) Source type: large scale study | |||||||
rs373179238 | 30 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.112689568C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689568C>T Locations: - p.Glu30Lys (Ensembl:ENST00000374236) - c.88G>A (Ensembl:ENST00000374236) Source type: large scale study | |||||||
COSV105926099 | 30 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112689567T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112689567T>A Locations: - p.Glu30Val (cosmic curated:ENST00000374236) - c.89A>T (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs200109665 | 31 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.112689564T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689564T>C Locations: - p.Gln31Arg (Ensembl:ENST00000374236) - c.92A>G (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1159449049 | 32 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.112689562G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689562G>C Locations: - p.Gln32Glu (Ensembl:ENST00000374236) - c.94C>G (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1159449049 | 32 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.112689562G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689562G>T Locations: - p.Gln32Lys (Ensembl:ENST00000374236) - c.94C>A (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV65295450 | 33 | H>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112689558T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112689558T>A Locations: - p.His33Leu (cosmic curated:ENST00000374236) - c.98A>T (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954074 | 33 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112689559G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112689559G>A Locations: - p.His33Tyr (cosmic curated:ENST00000374236) - c.97C>T (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1837802546 | 34 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000009.12:g.112689556T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689556T>C Locations: - p.Ile34Val (Ensembl:ENST00000374236) - c.100A>G (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV65295381 | 37 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112689545T>G Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689545T>G Locations: - p.Q37H (NCI-TCGA:ENST00000374236) - p.Gln37His (cosmic curated:ENST00000374236) - c.111A>C (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV105926096 | 37 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112689547G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112689547G>T Locations: - p.Gln37Lys (cosmic curated:ENST00000374236) - c.109C>A (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV65295630 | 37 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112689546T>C Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689546T>C Locations: - p.Q37R (NCI-TCGA:ENST00000374236) - p.Gln37Arg (cosmic curated:ENST00000374236) - c.110A>G (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs773787022 | 39 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000009.12:g.112689541T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689541T>G Locations: - p.Lys39Gln (Ensembl:ENST00000374236) - c.115A>C (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs770485457 | 41 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.112689534G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112689534G>A Locations: - p.Ala41Val (Ensembl:ENST00000374236) - c.122C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954098 | 45 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687629G>A Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687629G>A Locations: - p.A45V (NCI-TCGA:ENST00000374236) - p.Ala45Val (cosmic curated:ENST00000374236) - c.134C>T (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954185 rs1189846616 | 46 | H>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.112687626T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687626T>A Locations: - p.His46Leu (Ensembl:ENST00000374236) - c.137A>T (Ensembl:ENST00000374236) Source type: large scale study | |||||||
COSV65295123 | 47 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687624C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112687624C>T Locations: - p.Ala47Thr (cosmic curated:ENST00000374236) - c.139G>A (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1837723769 | 47 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.112687623G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687623G>A Locations: - p.Ala47Val (Ensembl:ENST00000374236) - c.140C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1275306363 | 48 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.112687621G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687621G>A Locations: - p.His48Tyr (Ensembl:ENST00000374236) - c.142C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1255309100 | 50 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000009.12:g.112687615A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687615A>T Locations: - p.Ser50Thr (Ensembl:ENST00000374236) - c.148T>A (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1231484464 | 52 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.721) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000009.12:g.112687608T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687608T>C Locations: - p.Tyr52Cys (Ensembl:ENST00000374236) - c.155A>G (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV65295351 | 53 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687605A>G Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687605A>G Locations: - p.F53S (NCI-TCGA:ENST00000374236) - p.Phe53Ser (cosmic curated:ENST00000374236) - c.158T>C (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs772682472 | 54 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000009.12:g.112687603T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687603T>C Locations: - p.Ile54Val (Ensembl:ENST00000374236) - c.160A>G (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1182832333 | 55 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.462) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.112687599G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687599G>A Locations: - p.Thr55Ile (Ensembl:ENST00000374236) - c.164C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954114 | 55 | T>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687599G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112687599G>C Locations: - p.Thr55Ser (cosmic curated:ENST00000374236) - c.164C>G (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV65295443 | 56 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687597G>C Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687597G>C Locations: - p.Q56E (NCI-TCGA:ENST00000374236) - p.Gln56Glu (cosmic curated:ENST00000374236) - c.166C>G (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954088 | 57 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687594C>G Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687594C>G Locations: - p.D57H (NCI-TCGA:ENST00000374236) - p.Asp57His (cosmic curated:ENST00000374236) - c.169G>C (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954087 | 57 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687593T>A Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687593T>A Locations: - p.D57V (NCI-TCGA:ENST00000374236) - p.Asp57Val (cosmic curated:ENST00000374236) - c.170A>T (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs769793637 | 58 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.112687591A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687591A>T Locations: - p.Ser58Thr (Ensembl:ENST00000374236) - c.172T>A (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs1229653340 | 58 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.658) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.112687590G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687590G>T Locations: - p.Ser58Tyr (Ensembl:ENST00000374236) - c.173C>A (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954105 | 59 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687588C>A Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687588C>A Locations: - p.A59S (NCI-TCGA:ENST00000374236) - p.Ala59Ser (cosmic curated:ENST00000374236) - c.175G>T (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV65295431 | 65 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687569A>C Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687569A>C Locations: - p.L65R (NCI-TCGA:ENST00000374236) - p.Leu65Arg (cosmic curated:ENST00000374236) - c.194T>G (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV100954133 | 66 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687566G>A Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687566G>A Locations: - p.P66L (NCI-TCGA:ENST00000374236) - p.Pro66Leu (cosmic curated:ENST00000374236) - c.197C>T (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs748064382 | 70 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.721) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.112687555G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687555G>A Locations: - p.Arg70Cys (Ensembl:ENST00000374236) - c.208C>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs373351991 | 70 | R>H | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.112687554C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687554C>T Locations: - p.Arg70His (Ensembl:ENST00000374236) - c.209G>A (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs373351991 | 70 | R>L | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.112687554C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687554C>A Locations: - p.Arg70Leu (Ensembl:ENST00000374236) - c.209G>T (Ensembl:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV65295687 | 70 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687555G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112687555G>T Locations: - p.Arg70Ser (cosmic curated:ENST00000374236) - c.208C>A (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
COSV106534870 | 72 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.112687548T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.112687548T>C Locations: - p.Asp72Gly (cosmic curated:ENST00000374236) - c.215A>G (cosmic curated:ENST00000374236) Source type: large scale study Cross-references: | |||||||
rs781051198 | 72 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.112687549C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687549C>G Locations: - p.Asp72His (Ensembl:ENST00000374236) - c.214G>C (Ensembl:ENST00000374236) Source type: large scale study | |||||||
rs1311516325 | 73 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000009.12:g.112687546G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.112687546G>C Locations: - p.Pro73Ala (Ensembl:ENST00000374236) - c.217C>G (Ensembl:ENST00000374236) Source type: large scale study Cross-references: |