data/variants.csv

obs_id,project,transcript,uniprot,site_raw,variant_raw,hgvs_p,gene,wt_aa,position,mut_aa,canonical_wt,allele_frequency,vaf_interpretation,type_source,type_inferred,effect_source,qc_flags,qc_status,domain,exon,functional_class,hotspot,ddg_kcal,ddg_source,route,priority_score,structure_tractable,druggability,cavity_created_A3,structure_quality,confidence,benchmark,provenance_version
OBS-001,Lung Cancer,NP_000537.3,P04637,Exon 4,TP53: p. R110C,p.R110C,TP53,R,110,C,R,0.14,Sample VAF (not population AF),Missense,Missense,Likely Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 4,DBD (other),False,1.0,DBD N-terminal rim,Pocket gate → docking if tractable,0.513,Yes,0.508,29.2,0.78,0.88,False,rescue-score-v1.0
OBS-002,Lung Cancer,NP_000537.3,P04637,Exon 5,TP53: p. Q144L,p.Q144L,TP53,Q,144,L,Q,0.15,Sample VAF (not population AF),Nonsense,Missense,loss of function - predicted,"Type mismatch (source=Nonsense, notation=Missense)",Flagged,DNA-binding (94–292),Exon 5,DBD (other),False,0.8,Surface/polar to hydrophobic,Pocket gate → docking if tractable,0.397,Yes,0.465,0.0,0.78,0.52,False,rescue-score-v1.0
OBS-003,Lung Cancer,NP_000537.3,P04637,Exon 5,TP53: p.K132N,p.K132N,TP53,K,132,N,K,0.13,Sample VAF (not population AF),Missense,Missense,loss of function - predicted,Pass,Pass,DNA-binding (94–292),Exon 5,DBD (other),False,1.2,Buried polar substitution,Docking + MD (benchmark / cavity),0.648,Yes,0.676,84.0,0.78,0.88,False,rescue-score-v1.0
OBS-004,Lung Cancer,NP_000537.3,P04637,Exon 5,TP53: p. P152L,p.P152L,TP53,P,152,L,P,0.5,Sample VAF (not population AF),Missense,Missense,Likely Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 5,DBD (other),False,1.8,L2-adjacent proline substitution,Pocket gate → docking if tractable,0.541,Yes,0.465,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-005,Lung Cancer,NP_000537.3,P04637,Exon 5,TP53 p. R175L,p.R175L,TP53,R,175,L,R,0.31,Sample VAF (not population AF),Missense,Missense,Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 5,Zinc-region structural,True,4.1,Zn-region structural; Leu cannot support WT H-bond network,Pocket gate → docking if tractable,0.732,Yes,0.531,11.1,0.78,0.88,False,rescue-score-v1.0
OBS-006,Lung Cancer,NP_000537.3,P04637,Exon 5,TP53 p. V172F,p.V172F,TP53,V,172,F,V,0.44,Sample VAF (not population AF),Missense,Missense,loss of function - predicted,Pass,Pass,DNA-binding (94–292),Exon 5,Loop (L1/L2/L3),False,2.1,Buried core packing,Pocket gate → docking if tractable,0.563,Yes,0.516,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-007,Lung Cancer,NP_000537.3,P04637,Exon 5,TP53: p. G154C,p.G154C,TP53,G,154,C,G,0.16,Sample VAF (not population AF),Missense,Missense,unknown,Pass,Pass,DNA-binding (94–292),Exon 5,DBD (other),False,1.1,L2-adjacent glycine,Pocket gate → docking if tractable,0.48,Yes,0.465,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-008,Lung Cancer,NP_000537.3,P04637,Exon 6,TP53: p. Y220C,p.Y220C,TP53,Y,220,C,Y,0.01,Sample VAF (not population AF),Missense,Missense,Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 6,Structural / cavity or core,True,3.78,Joerger/Fersht thermal unfolding; cavity-forming archetype,Docking + MD (benchmark / cavity),0.877,Yes,0.886,200.0,0.9,0.88,True,rescue-score-v1.0
OBS-009,Lung Cancer,NP_000537.3,P04637,Exon 6,TP53: p.Q192*,p.Q192*,TP53,Q,192,*,Q,0.3,Sample VAF (not population AF),Nonsense,Nonsense,loss of function - predicted,Pass,Pass,DNA-binding (94–292),Exon 6,Truncating / stop-gain,False,,Not applicable — no intact full-length DBD,Alternative strategy (no automatic docking),0.196,No,0.0,0.0,0.3,0.52,False,rescue-score-v1.0
OBS-010,Lung Cancer,NP_000537.3,P04637,Exon 6,TP53 p. E204*,p.E204*,TP53,E,204,*,E,0.3,Sample VAF (not population AF),Missense,Nonsense,Likely Loss-of-function,"Type mismatch (source=Missense, notation=Nonsense)",Flagged,DNA-binding (94–292),Exon 6,Truncating / stop-gain,False,,Not applicable — no intact full-length DBD,Alternative strategy (no automatic docking),0.096,No,0.0,0.0,0.3,0.52,False,rescue-score-v1.0
OBS-011,Lung Cancer,NP_000537.3,P04637,Exon 6,TP53: p. R213Q,p.R213Q,TP53,R,213,Q,R,0.01,Sample VAF (not population AF),Missense,Missense,loss of function - predicted,Pass,Pass,DNA-binding (94–292),Exon 6,DBD (other),False,0.7,Surface charge change,Pocket gate → docking if tractable,0.496,Yes,0.483,13.3,0.78,0.88,False,rescue-score-v1.0
OBS-012,Lung Cancer,NP_000537.3,P04637,Exon 6,TP53 p. Y220S,p.Y220S,TP53,Y,220,S,Y,0.01,Sample VAF (not population AF),Missense,Missense,Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 6,Structural / cavity or core,True,3.2,"Y220 series; smaller side chain, still cavity-forming",Docking + MD (benchmark / cavity),0.841,Yes,0.829,160.0,0.9,0.88,False,rescue-score-v1.0
OBS-013,Lung Cancer,NP_000537.3,P04637,Exon 7,TP53: p. L252P,p.L252P,TP53,L,252,P,L,0.31,Sample VAF (not population AF),Missense,Missense,Likely Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 7,DBD (other),False,2.7,Helix-breaking proline in DBD,Docking + MD (benchmark / cavity),0.716,Yes,0.688,89.1,0.78,0.88,False,rescue-score-v1.0
OBS-014,Lung Cancer,NP_000537.3,P04637,Exon 7,TP53 p. R249S,p.R249S,TP53,R,249,S,R,0.12,Sample VAF (not population AF),Missense,Missense,Likely Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 7,Structural / cavity or core,True,2.2,L3 / DNA-binding surface,Specialized DNA-contact route,0.602,Yes,0.524,38.0,0.78,0.88,False,rescue-score-v1.0
OBS-015,Lung Cancer,NP_000537.3,P04637,Exon 7,TP53 p. G244D,p.G244D,TP53,G,244,D,G,0.43,Sample VAF (not population AF),Missense,Missense,Likely Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 7,Loop (L1/L2/L3),False,2.4,L3 loop charge introduction,Pocket gate → docking if tractable,0.567,Yes,0.465,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-016,Lung Cancer,NP_000537.3,P04637,Exon 7,TP53: p. G245C,p.G245C,TP53,G,245,C,G,0.18,Sample VAF (not population AF),Missense,Missense,Inconclusive,Pass,Pass,DNA-binding (94–292),Exon 7,Structural / cavity or core,True,2.8,L3 loop structural,Pocket gate → docking if tractable,0.633,Yes,0.465,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-017,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53: p.D281E,p.D281E,TP53,D,281,E,D,0.25,Sample VAF (not population AF),Missense,Missense,loss of function,Pass,Pass,DNA-binding (94–292),Exon 8,DBD (other),False,0.4,Conservative surface charge,Pocket gate → docking if tractable,0.479,Yes,0.465,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-018,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53: p.D281E,p.D281E,TP53,D,281,E,D,0.11,Sample VAF (not population AF),Missense,Missense,loss of function,Pass,Pass,DNA-binding (94–292),Exon 8,DBD (other),False,0.4,Conservative surface charge,Pocket gate → docking if tractable,0.479,Yes,0.465,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-019,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53: p.D281H,p.D281H,TP53,D,281,H,D,0.01,Sample VAF (not population AF),Missense,Missense,Likely Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 8,DBD (other),False,1.3,Charge reversal near DNA-binding surface,Pocket gate → docking if tractable,0.519,Yes,0.465,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-020,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53 p. P278S,p.P278S,TP53,P,278,S,P,0.29,Sample VAF (not population AF),Missense,Missense,Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 8,DBD (other),False,1.6,H2-adjacent,Pocket gate → docking if tractable,0.535,Yes,0.479,10.7,0.78,0.88,False,rescue-score-v1.0
OBS-021,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53 p. R282W,p.R282W,TP53,R,282,W,R,0.12,Sample VAF (not population AF),Missense,Missense,Likely Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 8,Structural / cavity or core,True,3.3,H2 helix structural hotspot,Specialized DNA-contact route,0.639,Yes,0.465,0.0,0.9,0.88,False,rescue-score-v1.0
OBS-022,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53 p. V274F,p.V274F,TP53,V,274,F,V,0.19,Sample VAF (not population AF),Missense,Missense,Likely Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 8,DBD (other),False,1.4,Near DNA-contact surface,Pocket gate → docking if tractable,0.523,Yes,0.465,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-023,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53 p. R273C,p.R273C,TP53,R,273,C,R,0.06,Sample VAF (not population AF),Missense,Missense,loss of function,Pass,Pass,DNA-binding (94–292),Exon 8,DNA-contact,True,0.9,"DNA-contact; modest destabilization, DNA-binding defect",Specialized DNA-contact route,0.526,Yes,0.424,7.3,0.9,0.88,False,rescue-score-v1.0
OBS-024,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53 p.E286A,p.E286A,TP53,E,286,A,E,0.2,Sample VAF (not population AF),Missense,Missense,unknown,Pass,Pass,DNA-binding (94–292),Exon 8,DBD (other),False,0.9,Helix C-cap charge loss,Pocket gate → docking if tractable,0.477,Yes,0.497,22.4,0.78,0.88,False,rescue-score-v1.0
OBS-025,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53: p. D281H,p.D281H,TP53,D,281,H,D,0.48,Sample VAF (not population AF),Missense,Missense,Likely Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 8,DBD (other),False,1.3,Charge reversal near DNA-binding surface,Pocket gate → docking if tractable,0.519,Yes,0.465,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-026,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53: p.R282W,p.R282W,TP53,R,282,W,R,0.17,Sample VAF (not population AF),Missense,Missense,loss of function,Pass,Pass,DNA-binding (94–292),Exon 8,Structural / cavity or core,True,3.3,H2 helix structural hotspot,Specialized DNA-contact route,0.639,Yes,0.465,0.0,0.9,0.88,False,rescue-score-v1.0
OBS-027,Lung Cancer,NP_000537.3,P04637,Exon 8,TP53: p. E285K,p.E285K,TP53,E,285,K,E,0.18,Sample VAF (not population AF),Missense,Missense,Likely Loss-of-function,Pass,Pass,DNA-binding (94–292),Exon 8,DBD (other),False,1.5,"Charge reversal, H2 C-terminus",Pocket gate → docking if tractable,0.528,Yes,0.465,0.0,0.78,0.88,False,rescue-score-v1.0
OBS-028,Lung Cancer,NP_000537.3,P04637,Splice,TP53: p.X307,p.X307,TP53,X,307,X,A,0.02,Sample VAF (not population AF),Splice Site,Splice Site,Likely Loss-of-function,Non-standard p.X splice notation; protein product not defined,Flagged,Transcript / splice,Splice (exon 8/9),Splice-site (protein product undefined),False,,Not applicable — no intact full-length DBD,Alternative strategy (no automatic docking),0.096,No,0.0,0.0,0.3,0.52,False,rescue-score-v1.0
OBS-029,Lung Cancer,NP_000537.3,P04637,Splice,Tp53: p.X126,p.X126,TP53,X,126,X,Y,0.57,Sample VAF (not population AF),Splice Site,Splice Site,Likely Loss-of-function,Non-standard p.X splice notation; protein product not defined,Flagged,Transcript / splice,Splice (exon 4/5),Splice-site (protein product undefined),False,,Not applicable — no intact full-length DBD,Alternative strategy (no automatic docking),0.096,No,0.0,0.0,0.3,0.52,False,rescue-score-v1.0
OBS-030,Lung Cancer,NP_000537.3,P04637,Splice,TP53 p.X125,p.X125,TP53,X,125,X,T,0.12,Sample VAF (not population AF),Splice Site,Splice Site,Likely Loss-of-function,Non-standard p.X splice notation; protein product not defined,Flagged,Transcript / splice,Splice (exon 4/5),Splice-site (protein product undefined),False,,Not applicable — no intact full-length DBD,Alternative strategy (no automatic docking),0.096,No,0.0,0.0,0.3,0.52,False,rescue-score-v1.0
OBS-031,Lung Cancer,NP_000537.3,P04637,Splice,TP53: p.X307,p.X307,TP53,X,307,X,A,0.25,Sample VAF (not population AF),Splice Site,Splice Site,Likely Loss-of-function,Non-standard p.X splice notation; protein product not defined,Flagged,Transcript / splice,Splice (exon 8/9),Splice-site (protein product undefined),False,,Not applicable — no intact full-length DBD,Alternative strategy (no automatic docking),0.096,No,0.0,0.0,0.3,0.52,False,rescue-score-v1.0
OBS-032,Lung Cancer,NP_000537.3,P04637,Splice,TP53: p.X261,p.X261,TP53,X,261,X,S,0.34,Sample VAF (not population AF),Splice Site,Splice Site,Likely Loss-of-function,Non-standard p.X splice notation; protein product not defined,Flagged,Transcript / splice,Splice (exon 7/8),Splice-site (protein product undefined),False,,Not applicable — no intact full-length DBD,Alternative strategy (no automatic docking),0.096,No,0.0,0.0,0.3,0.52,False,rescue-score-v1.0