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## PhD-SNPg - Predicting human Deleterious SNPs in whole genome.
## http://snps.biofold.org/phd-snpg
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#CHROM	POS	ID	REF	ALT	PREDICTION	SCORE	FDR	PhyloP100	AvgPhyloP100	transcript	gene	strand	coordinates(gDNA/cDNA/protein)	region	info
1	197094291	.	C	T	Pathogenic	0.988	0.023	7.304	4.071	NM_018136 (protein_coding)	ASPM	-	chr1:g.197094291C>T/c.2967G>A/p.W989*	cds_in_exon_11	CSQN=Missense;codon_pos=197094291-197094292-197094293;ref_codon_seq=TGG;source=UCSCRefGene
2	31751295	.	G	A	Pathogenic	0.913	0.053	1.810	2.674	NM_000348 (protein_coding)	SRD5A2	-	chr2:g.31751295G>A/c.735C>T/p.L245L	cds_in_exon_5	CSQN=Synonymous;codon_pos=31751295-31751296-31751297;ref_codon_seq=CTC;source=UCSCRefGene
5	74046464	.	C	T	Benign	0.009	0.021	-0.070	5.860	NM_001281302 (protein_coding)	GFM2	-	chr5:g.74046464C>T/c.555G>A/p.E185E	cds_in_exon_8	CSQN=Synonymous;codon_pos=74046464-74046465-74046466;ref_codon_seq=GAG;source=UCSCRefGene
11	120996292	.	A	G	Benign	0.002	0.006	-8.628	2.717	NM_005422 (protein_coding)	TECTA	+	chr11:g.120996292A>G/c.1485A>G/p.A495A	cds_in_exon_7	CSQN=Synonymous;codon_pos=120996290-120996291-120996292;ref_codon_seq=GCA;source=UCSCRefGene
12	102158014	.	C	T	Pathogenic	0.994	0.026	7.000	5.352	NM_024312 (protein_coding)	GNPTAB	-	chr12:g.102158014C>T/c.2681G>A/p.W894*	cds_in_exon_13	CSQN=Missense;codon_pos=102158013-102158014-102158015;ref_codon_seq=TGG;source=UCSCRefGene
15	34542872	.	C	G	Benign	0.112	0.057	-0.228	5.536	NM_001042496 (protein_coding)	SLC12A6	-	chr15:g.34542872C>G/c.1524G>C/p.P508P	cds_in_exon_12	CSQN=Synonymous;codon_pos=34542872-34542873-34542874;ref_codon_seq=CCG;source=UCSCRefGene
15	42684875	.	C	T	Benign	0.007	0.018	-3.599	3.084	NM_000070 (protein_coding)	CAPN3	+	chr15:g.42684875C>T/c.984C>T/p.C328C	cds_in_exon_7	CSQN=Synonymous;codon_pos=42684873-42684874-42684875;ref_codon_seq=TGC;source=UCSCRefGene
16	20359974	.	A	G	Pathogenic	0.992	0.023	8.536	3.804	NM_001278614 (protein_coding)	UMOD	-	chr16:g.20359974A>G/c.748T>C/p.C250R	cds_in_exon_4	CSQN=Missense;codon_pos=20359972-20359973-20359974;ref_codon_seq=TGC;source=UCSCRefGene
16	28497938	.	C	T	Pathogenic	0.981	0.028	5.800	3.144	NM_001042432 (protein_coding)	CLN3	-	chr16:g.28497938C>T/c.494G>A/p.G165E	cds_in_exon_8	CSQN=Missense;codon_pos=28497937-28497938-28497939;ref_codon_seq=GGG;source=UCSCRefGene
17	41251803	.	T	C	Pathogenic	0.884	0.062	3.387	2.950	NM_007300 (protein_coding)	BRCA1	-	chr17:g.41251803T>C/c.536A>G/p.Y179C	cds_in_exon_7	CSQN=Missense;codon_pos=41251802-41251803-41251804;ref_codon_seq=TAC;source=UCSCRefGene