Chromosome | Position | Reference | Alternate | Sample observed in | Variant details | Gene | dbSNP ID/remarks | Domain at variant position as per ScanProsite | Profiles with high probability of occurrence | PROVEAN score, Prediction (cutoff = −2.5) |
---|---|---|---|---|---|---|---|---|---|---|
chr7 | 2,464,501 | G | A | Blood | c.343G > A p.Val115Met | HIST3H2A | rs110683125 | No domain |  | −1.566, Neutral |
chr10 | 95,036,026 | A | G | Blood | c.803 T > C p.Leu268Ser | STON2 | novel | No domain | N-glycosylation site | 0.156, Neutral |
chr16 | 48,710,798 | G | A | Blood | c.1216G > A p.Ala406Thr | PERM1 | rs132949042; different variant in different assembly | No predicted domain |  | −0.322, Neutral |
chr18 | 56,842,100 | G | A | Blood | c.46C > T p.Leu16Phe | KLK4 | rs207879743 | No domain |  | −1.194, Neutral |
chr1 | 82,070,747 | C | G | Tissue | c.935C > G p.Ala312Gly | KNG1 | rs43705174 | Kininogen-type cystatin domain; Cysteine proteases inhibitors signature |  | −1.941, Neutral |
chr1 | 130,202,956 | C | T | Tissue | c.596G > A p.Ser199Asn | SLC25A36 | novel | Solute carrier (Solcar) repeat | Protein kinase C phosphorylation site | −1.306, Neutral |
chr2 | 99,269,960 | C | G | Tissue | c.355G > C p.Glu119Gln | MDH1B | rs209212339 | No predicted domain |  | −1.616, Neutral |
chr6 | 6,791,420 | G | C | Tissue | c.173G > C p.Ser58Thr | FABP2 | rs43450379; no missense variant details available | No domain |  | 0.71, Neutral |
chr6 | 6,791,467 | G | C | Tissue | c.220G > C p.Ala74Pro | FABP2 | rs209700321, rs43450380; no missense variant details available | No domain | Casein kinase II phosphorylation site | −3.07, Deleterious |
chr7 | 2,464,214 | C | G | Tissue | c.56C > G p.Ser19Cys | HIST3H2A | novel | No domain | Protein kinase C phosphorylation site | −3.878, Deleterious |
chr10 | 75,128,451 | T | A | Tissue | c.1112A > T p.Lys371Met | KRT8 | novel | Intermediate filament (IF) rod domain |  | −5.471, Deleterious |
chr10 | 75,128,460 | C | T | Tissue | c.1103G > A p.Arg368Lys | KRT8 | novel | Intermediate filament (IF) rod domain |  | −0.198, Neutral |
chr10 | 75,128,467 | C | T | Tissue | c.1096G > A p.Ala366Thr | KRT8 | novel | Intermediate filament (IF) rod domain |  | −3.519, Deleterious |
chr10 | 75,128,854 | C | T | Tissue | c.709G > A p.Glu237Lys | KRT8 | novel | Intermediate filament (IF) rod domain |  | −1.535, Neutral |
chr10 | 75,129,398 | C | T | Tissue | c.165G > A p.Met55Ile | KRT8 | novel | No domain |  | −0.094, Neutral |
chr10 | 103,727,085 | C | T | Tissue | c.158G > A p.Gly53Glu | FOXN3 | rs208438463 | No domain |  | −2.22, Neutral |
chr11 | 101,809,760 | C | G | Tissue | c.2298C > G p.Asp766Glu | TTC16 | novel | No domain | Casein kinase II phosphorylation site | 0.715, Neutral |
chr12 | 35,754,313 | T | G | Tissue | c.493A > C p.Thr165Pro | SAP18 | novel | No predicted domain |  | 1.027, Neutral |
chr13 | 16,992,516 | T | G | Tissue | c.83A > C p.Asn28Thr | YME1L1 | rs209048457 | No domain |  | −0.964, Neutral |
chr15 | 47,201,978 | G | C | Tissue | c.380C > G p.Ala127Gly | LOC616948 | rs209504468 | Zinc finger B-box type |  | 4.546, Neutral |
chr18 | 55,254,392 | C | A | Tissue | c.1057C > A p.Pro353Thr | PPP1R15A | novel | No predicted domain |  | 1.818, Neutral |
chr23 | 27,580,458 | T | G | Tissue | c.433A > C p.Ile145Leu | JSP.1 | rs42311131 | No domain |  | −1.142, Neutral |
chr23 | 27,580,953 | A | T | Tissue | c.134 T > A p.Ile45Asn | JSP.1 | novel | No domain |  | 0.088, Neutral |
chr23 | 27,637,398 | T | C | Tissue | c.535A > G p.Arg179Gly | BOLA | another variant of same position exists (rs135180180, leading to ter codon) | No domain |  | −2.647, Deleterious |
chr29 | 30,399,904 | A | G | Tissue | c.1012A > G p.Thr338Ala | EI24 | rs42178224 | No predicted domain | Protein kinase C phosphorylation site | 0.308, Neutral |