##ANNOTATOR_SETTINGS: SCRIPT_NAME=annotator.pl;SCRIPT_VERSION=11;HOST=wgs10.op.umcutrecht.nl;ENSEMBL_VERSION=72;DBSNP_VERSION=137;GERP_ALIGN_SET=mammals;INPUT_FILE_TYPE:pipelineRefiltered
#chr	pos	na_change	strand	raw_cov	inf_cov	inf_pnr	aa_change	genotype	gene_name	ccds_id	codon	snp_id	effect	hgvs_t	hgvs_p	polyphen_s	polyphen_p	sift_s	sift_p	grantham	gerp	gerp_region	high_freq	high_popu	gene_id	tran_id	prot_id	biotype	ncbi36_hg18	info
1	223988462	G/A	-1	11	0	G	L297F	A	TP53BP2	CCDS1538	Ctt/Ttt	novel	missense_variant	ENST00000391878.2:c.889C>T	ENSP00000375750.2:p.Leu297Phe	0.001	benign	0.7	tolerated	22	0.790	1.755	NA	NA	ENSG00000143514	ENST00000391878	ENSP00000375750	protein_coding	1_222055085	REFSEQ_P=NP_005417 | UNIPROT=Q13625 | REFSEQ_T=NM_005426.2 | GENE_DESC=tumor protein p53 binding protein, 2 [Source:HGNC Symbol;Acc:12000] | MIM_DESC= | UNIGENE=Hs.708253;Hs.523968 | MIM_ID=
1	223988462	G/A	-1	11	0	G	L426F	A	TP53BP2	CCDS44319	Ctt/Ttt	novel	missense_variant	ENST00000343537.7:c.1276C>T	ENSP00000341957.7:p.Leu426Phe	0.001	benign	0.7	tolerated	22	0.790	1.755	NA	NA	ENSG00000143514	ENST00000343537	ENSP00000341957	protein_coding	1_222055085	REFSEQ_P=NP_001026855 | UNIPROT=Q13625 | REFSEQ_T=NM_001031685.2 | GENE_DESC=tumor protein p53 binding protein, 2 [Source:HGNC Symbol;Acc:12000] | MIM_DESC= | UNIGENE=Hs.708253;Hs.523968 | MIM_ID=
1	227504819	T/C	-1	8	0	T	N22S	C	CDC42BPA	CCDS1558	aAt/aGt	novel	missense_variant	ENST00000366769.3:c.65A>G	ENSP00000355731.3:p.Asn22Ser	0.001	benign	0.38	tolerated	46	1.960	2.287	NA	NA	ENSG00000143776	ENST00000366769	ENSP00000355731	protein_coding	1_225571442	REFSEQ_P=NP_003598 | UNIPROT=Q5VT25 | REFSEQ_T=NM_003607.3 | GENE_DESC=CDC42 binding protein kinase alpha (DMPK-like) [Source:HGNC Symbol;Acc:1737] | MIM_DESC= | UNIGENE=Hs.605778;Hs.35433;Hs.623470;Hs.604610 | MIM_ID=
1	227504819	T/C	-1	8	0	T	N22S	C	CDC42BPA	NA	aAt/aGt	novel	missense_variant	ENST00000366765.3:c.65A>G	ENSP00000355727.3:p.Asn22Ser	0	benign	0.4	tolerated	46	1.960	2.287	NA	NA	ENSG00000143776	ENST00000366765	ENSP00000355727	protein_coding	1_225571442	REFSEQ_P= | UNIPROT=Q5VT25 | REFSEQ_T= | GENE_DESC=CDC42 binding protein kinase alpha (DMPK-like) [Source:HGNC Symbol;Acc:1737] | MIM_DESC= | UNIGENE=Hs.605778;Hs.35433;Hs.623470;Hs.604610 | MIM_ID=
1	227504819	T/C	-1	8	0	T	N22S	C	CDC42BPA	NA	aAt/aGt	novel	missense_variant	ENST00000366764.2:c.65A>G	ENSP00000355726.2:p.Asn22Ser	0.001	benign	0.32	tolerated	46	1.960	2.287	NA	NA	ENSG00000143776	ENST00000366764	ENSP00000355726	protein_coding	1_225571442	REFSEQ_P= | UNIPROT=Q5VT25 | REFSEQ_T= | GENE_DESC=CDC42 binding protein kinase alpha (DMPK-like) [Source:HGNC Symbol;Acc:1737] | MIM_DESC= | UNIGENE=Hs.605778;Hs.35433;Hs.623470;Hs.604610 | MIM_ID=
1	227504819	T/C	-1	8	0	T	N22S	C	CDC42BPA	NA	aAt/aGt	novel	missense_variant	ENST00000334218.5:c.65A>G	ENSP00000335341.5:p.Asn22Ser	0.002	benign	0.58	tolerated	46	1.960	2.287	NA	NA	ENSG00000143776	ENST00000334218	ENSP00000335341	protein_coding	1_225571442	REFSEQ_P= | UNIPROT=Q5VT25 | REFSEQ_T= | GENE_DESC=CDC42 binding protein kinase alpha (DMPK-like) [Source:HGNC Symbol;Acc:1737] | MIM_DESC= | UNIGENE=Hs.605778;Hs.35433;Hs.623470;Hs.604610 | MIM_ID=
1	227504819	T/C	-1	8	0	T	N22S	C	CDC42BPA	CCDS1559	aAt/aGt	novel	missense_variant	ENST00000366767.3:c.65A>G	ENSP00000355729.3:p.Asn22Ser	0.003	benign	0.57	tolerated	46	1.960	2.287	NA	NA	ENSG00000143776	ENST00000366767	ENSP00000355729	protein_coding	1_225571442	REFSEQ_P=NP_055641 | UNIPROT=Q5VT25 | REFSEQ_T=NM_014826.4 | GENE_DESC=CDC42 binding protein kinase alpha (DMPK-like) [Source:HGNC Symbol;Acc:1737] | MIM_DESC= | UNIGENE=Hs.605778;Hs.35433;Hs.623470;Hs.604610 | MIM_ID=
1	227504819	T/C	-1	8	0	T	N22S	C	CDC42BPA	NA	aAt/aGt	novel	missense_variant	ENST00000535525.1:c.65A>G	ENSP00000443275.1:p.Asn22Ser	0.002	benign	0.54	tolerated	46	1.960	2.287	NA	NA	ENSG00000143776	ENST00000535525	ENSP00000443275	protein_coding	1_225571442	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=CDC42 binding protein kinase alpha (DMPK-like) [Source:HGNC Symbol;Acc:1737] | MIM_DESC= | UNIGENE=Hs.605778;Hs.35433;Hs.623470;Hs.604610 | MIM_ID=
1	227504819	T/C	-1	8	0	T	N22S	C	CDC42BPA	NA	aAt/aGt	novel	missense_variant	ENST00000366766.2:c.65A>G	ENSP00000355728.2:p.Asn22Ser	0.003	benign	0.37	tolerated	46	1.960	2.287	NA	NA	ENSG00000143776	ENST00000366766	ENSP00000355728	protein_coding	1_225571442	REFSEQ_P= | UNIPROT=Q5VT25 | REFSEQ_T= | GENE_DESC=CDC42 binding protein kinase alpha (DMPK-like) [Source:HGNC Symbol;Acc:1737] | MIM_DESC= | UNIGENE=Hs.605778;Hs.35433;Hs.623470;Hs.604610 | MIM_ID=
2	27656583	C/A	1	9	0	C	A85D	A	NRBP1	CCDS1753	gCc/gAc	novel	missense_variant	ENST00000233557.3:c.254C>A	ENSP00000233557.3:p.Ala85Asp	0.999	probably damaging	0	deleterious	126	4.000	3.426	NA	NA	ENSG00000115216	ENST00000233557	ENSP00000233557	protein_coding	2_27510087	REFSEQ_P= | UNIPROT=Q9UHY1 | REFSEQ_T= | GENE_DESC=nuclear receptor binding protein 1 [Source:HGNC Symbol;Acc:7993] | MIM_DESC= | UNIGENE=Hs.739278;Hs.515876;Hs.738928 | MIM_ID=
2	27656583	C/A	1	9	0	C	A85D	A	NRBP1	NA	gCc/gAc	novel	missense_variant	ENST00000419281.2:c.254C>A	ENSP00000403916.2:p.Ala85Asp	0.999	probably damaging	0	deleterious	126	4.000	3.426	NA	NA	ENSG00000115216	ENST00000419281	ENSP00000403916	protein_coding	2_27510087	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=nuclear receptor binding protein 1 [Source:HGNC Symbol;Acc:7993] | MIM_DESC= | UNIGENE=Hs.739278;Hs.515876;Hs.738928 | MIM_ID=
2	27656583	C/A	1	9	0	C	A85D	A	NRBP1	NA	gCc/gAc	novel	missense_variant	ENST00000379863.3:c.254C>A	ENSP00000369192.3:p.Ala85Asp	0.999	probably damaging	0	deleterious	126	4.000	3.426	NA	NA	ENSG00000115216	ENST00000379863	ENSP00000369192	protein_coding	2_27510087	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=nuclear receptor binding protein 1 [Source:HGNC Symbol;Acc:7993] | MIM_DESC= | UNIGENE=Hs.739278;Hs.515876;Hs.738928 | MIM_ID=
2	27656583	C/A	1	9	0	C	A85D	A	NRBP1	CCDS1753	gCc/gAc	novel	missense_variant	ENST00000379852.3:c.254C>A	ENSP00000369181.3:p.Ala85Asp	0.999	probably damaging	0	deleterious	126	4.000	3.426	NA	NA	ENSG00000115216	ENST00000379852	ENSP00000369181	protein_coding	2_27510087	REFSEQ_P=NP_037524 | UNIPROT=Q9UHY1 | REFSEQ_T=NM_013392.2 | GENE_DESC=nuclear receptor binding protein 1 [Source:HGNC Symbol;Acc:7993] | MIM_DESC= | UNIGENE=Hs.739278;Hs.515876;Hs.738928 | MIM_ID=
2	102488127	G/C	1	10	0	G	D866H	C	MAP4K4	NA	Gac/Cac	novel	missense_variant	ENST00000425019.1:c.2596G>C	ENSP00000392830.1:p.Asp866His	0.858	possibly damaging	0.25	tolerated	81	3.730	3.730	NA	NA	ENSG00000071054	ENST00000425019	ENSP00000392830	protein_coding	2_101854559	REFSEQ_P=NP_663719 | UNIPROT= | REFSEQ_T=NM_145686.3 | GENE_DESC=mitogen-activated protein kinase kinase kinase kinase 4 [Source:HGNC Symbol;Acc:6866] | MIM_DESC= | UNIGENE=Hs.745197 | MIM_ID=
2	102488127	G/C	1	10	0	G	D873H	C	MAP4K4	NA	Gac/Cac	novel	missense_variant	ENST00000350878.4:c.2617G>C	ENSP00000343658.4:p.Asp873His	0	unknown	0.26	tolerated	81	3.730	3.730	NA	NA	ENSG00000071054	ENST00000350878	ENSP00000343658	protein_coding	2_101854559	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=mitogen-activated protein kinase kinase kinase kinase 4 [Source:HGNC Symbol;Acc:6866] | MIM_DESC= | UNIGENE=Hs.745197 | MIM_ID=
2	201724914	T/C	-1	14	0	T	R139G	C	CLK1	CCDS2331	Agg/Ggg	novel	missense_variant	ENST00000321356.4:c.415A>G	ENSP00000326830.4:p.Arg139Gly	0.922	probably damaging	0.03	deleterious	125	4.120	3.413	NA	NA	ENSG00000013441	ENST00000321356	ENSP00000326830	protein_coding	2_201433159	REFSEQ_P=NP_004062 | UNIPROT=P49759 | REFSEQ_T=NM_004071.3 | GENE_DESC=CDC-like kinase 1 [Source:HGNC Symbol;Acc:2068] | MIM_DESC= | UNIGENE=Hs.624435;Hs.433732 | MIM_ID=
2	201724914	T/C	-1	14	0	T	R139G	C	CLK1	NA	Agg/Ggg	novel	missense_variant	ENST00000409403.2:c.415A>G	ENSP00000386875.2:p.Arg139Gly	0.998	probably damaging	0.03	deleterious	125	4.120	3.413	NA	NA	ENSG00000013441	ENST00000409403	ENSP00000386875	protein_coding	2_201433159	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=CDC-like kinase 1 [Source:HGNC Symbol;Acc:2068] | MIM_DESC= | UNIGENE=Hs.624435;Hs.433732 | MIM_ID=
2	201724914	T/C	-1	14	0	T	R181G	C	CLK1	CCDS54427	Agg/Ggg	novel	missense_variant	ENST00000434813.2:c.541A>G	ENSP00000394734.2:p.Arg181Gly	0.996	probably damaging	0.01	deleterious	125	4.120	3.413	NA	NA	ENSG00000013441	ENST00000434813	ENSP00000394734	protein_coding	2_201433159	REFSEQ_P=NP_001155879 | UNIPROT=P49759 | REFSEQ_T=NM_001162407.1 | GENE_DESC=CDC-like kinase 1 [Source:HGNC Symbol;Acc:2068] | MIM_DESC= | UNIGENE=Hs.624435;Hs.433732 | MIM_ID=
3	178947818	C/T	1	9	0	C	T898I	T	PIK3CA	CCDS43171	aCa/aTa	novel	missense_variant	ENST00000263967.3:c.2693C>T	ENSP00000263967.3:p.Thr898Ile	0.999	probably damaging	0.02	deleterious	89	3.730	1.295	NA	NA	ENSG00000121879	ENST00000263967	ENSP00000263967	protein_coding	3_180430512	REFSEQ_P=NP_006209 | UNIPROT=P42336 | REFSEQ_T=NM_006218.2 | GENE_DESC=phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha [Source:HGNC Symbol;Acc:8975] | MIM_DESC= CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL; BREAST CANCER; HEPATOCELLULAR CARCINOMA; OVARIAN CANCER; KERATOSIS, SEBORRHEIC; COLORECTAL CANCER; CRC | UNIGENE=Hs.627302;Hs.633537;Hs.85701;Hs.715194;Hs.620758;Hs.553498 | MIM_ID=612918;114480;114550;167000;182000;114500
5	137423570	T/G	1	10	0	T	M124R	G	WNT8A	NA	aTg/aGg	novel	missense_variant	ENST00000504809.1:c.371T>G	ENSP00000424809.1:p.Met124Arg	0.69	possibly damaging	0.65	tolerated	91	4.650	2.471	NA	NA	ENSG00000061492	ENST00000504809	ENSP00000424809	protein_coding	5_137451469	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=wingless-type MMTV integration site family, member 8A [Source:HGNC Symbol;Acc:12788] | MIM_DESC= | UNIGENE=Hs.591274 | MIM_ID=
5	137423570	T/G	1	10	0	T	M106R	G	WNT8A	NA	aTg/aGg	novel	missense_variant	ENST00000361560.2:c.317T>G	ENSP00000354726.2:p.Met106Arg	0.456	possibly damaging	0.36	tolerated	91	4.650	2.471	NA	NA	ENSG00000061492	ENST00000361560	ENSP00000354726	protein_coding	5_137451469	REFSEQ_P= | UNIPROT=Q9H1J5 | REFSEQ_T= | GENE_DESC=wingless-type MMTV integration site family, member 8A [Source:HGNC Symbol;Acc:12788] | MIM_DESC= | UNIGENE=Hs.591274 | MIM_ID=
5	137423570	T/G	1	10	0	T	M106R	G	WNT8A	CCDS43368	aTg/aGg	novel	missense_variant	ENST00000398754.1:c.317T>G	ENSP00000381739.1:p.Met106Arg	0.592	possibly damaging	0.41	tolerated	91	4.650	2.471	NA	NA	ENSG00000061492	ENST00000398754	ENSP00000381739	protein_coding	5_137451469	REFSEQ_P=NP_490645 | UNIPROT=Q9H1J5 | REFSEQ_T=NM_058244.2 | GENE_DESC=wingless-type MMTV integration site family, member 8A [Source:HGNC Symbol;Acc:12788] | MIM_DESC= | UNIGENE=Hs.591274 | MIM_ID=
5	137423570	T/G	1	10	0	T	M124R	G	WNT8A	NA	aTg/aGg	novel	missense_variant	ENST00000506684.1:c.371T>G	ENSP00000426653.1:p.Met124Arg	0.69	possibly damaging	0.52	tolerated	91	4.650	2.471	NA	NA	ENSG00000061492	ENST00000506684	ENSP00000426653	protein_coding	5_137451469	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=wingless-type MMTV integration site family, member 8A [Source:HGNC Symbol;Acc:12788] | MIM_DESC= | UNIGENE=Hs.591274 | MIM_ID=
5	137423571	G/A	1	10	0	G	M124I	A	WNT8A	NA	atG/atA	novel	missense_variant	ENST00000504809.1:c.372G>A	ENSP00000424809.1:p.Met124Ile	0.443	possibly damaging	0.16	tolerated	10	3.800	2.942	NA	NA	ENSG00000061492	ENST00000504809	ENSP00000424809	protein_coding	5_137451470	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=wingless-type MMTV integration site family, member 8A [Source:HGNC Symbol;Acc:12788] | MIM_DESC= | UNIGENE=Hs.591274 | MIM_ID=
5	137423571	G/A	1	10	0	G	M106I	A	WNT8A	NA	atG/atA	novel	missense_variant	ENST00000361560.2:c.318G>A	ENSP00000354726.2:p.Met106Ile	0.231	benign	0.05	tolerated	10	3.800	2.942	NA	NA	ENSG00000061492	ENST00000361560	ENSP00000354726	protein_coding	5_137451470	REFSEQ_P= | UNIPROT=Q9H1J5 | REFSEQ_T= | GENE_DESC=wingless-type MMTV integration site family, member 8A [Source:HGNC Symbol;Acc:12788] | MIM_DESC= | UNIGENE=Hs.591274 | MIM_ID=
5	137423571	G/A	1	10	0	G	M106I	A	WNT8A	CCDS43368	atG/atA	novel	missense_variant	ENST00000398754.1:c.318G>A	ENSP00000381739.1:p.Met106Ile	0.341	benign	0.06	tolerated	10	3.800	2.942	NA	NA	ENSG00000061492	ENST00000398754	ENSP00000381739	protein_coding	5_137451470	REFSEQ_P=NP_490645 | UNIPROT=Q9H1J5 | REFSEQ_T=NM_058244.2 | GENE_DESC=wingless-type MMTV integration site family, member 8A [Source:HGNC Symbol;Acc:12788] | MIM_DESC= | UNIGENE=Hs.591274 | MIM_ID=
5	137423571	G/A	1	10	0	G	M124I	A	WNT8A	NA	atG/atA	novel	missense_variant	ENST00000506684.1:c.372G>A	ENSP00000426653.1:p.Met124Ile	0.443	possibly damaging	0.09	tolerated	10	3.800	2.942	NA	NA	ENSG00000061492	ENST00000506684	ENSP00000426653	protein_coding	5_137451470	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=wingless-type MMTV integration site family, member 8A [Source:HGNC Symbol;Acc:12788] | MIM_DESC= | UNIGENE=Hs.591274 | MIM_ID=
6	138200252	C/T	1	17	0	C	P557L	T	TNFAIP3	CCDS5187	cCt/cTt	novel	missense_variant	ENST00000237289.4:c.1670C>T	ENSP00000237289.4:p.Pro557Leu	0	benign	0.58	tolerated	98	3.280	1.179	NA	NA	ENSG00000118503	ENST00000237289	ENSP00000237289	protein_coding	6_138241945	REFSEQ_P=NP_001257437,NP_001257436,NP_006281 | UNIPROT=P21580 | REFSEQ_T=NM_001270508.1,NM_006290.3,NM_001270507.1 | GENE_DESC=tumor necrosis factor, alpha-induced protein 3 [Source:HGNC Symbol;Acc:11896] | MIM_DESC= | UNIGENE=Hs.211600;Hs.715063 | MIM_ID=
8	37963909	G/A	1	11	0	G	V68I	A	ASH2L	NA	Gtc/Atc	novel	missense_variant	ENST00000517496.1:c.202G>A	ENSP00000430889.1:p.Val68Ile	0.24	benign	NA	NA	29	3.740	1.735	NA	NA	ENSG00000129691	ENST00000517496	ENSP00000430889	protein_coding	8_38083066	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=ash2 (absent, small, or homeotic)-like (Drosophila) [Source:HGNC Symbol;Acc:744] | MIM_DESC= | UNIGENE=Hs.521530;Hs.608756 | MIM_ID=
8	37963909	G/A	1	11	0	G	V68I	A	ASH2L	CCDS6101	Gtc/Atc	novel	missense_variant	ENST00000343823.6:c.202G>A	ENSP00000340896.5:p.Val68Ile	0.006	benign	0.7	tolerated	29	3.740	1.735	NA	NA	ENSG00000129691	ENST00000343823	ENSP00000340896	protein_coding	8_38083066	REFSEQ_P=NP_004665 | UNIPROT=Q9UBL3 | REFSEQ_T=NM_004674.4 | GENE_DESC=ash2 (absent, small, or homeotic)-like (Drosophila) [Source:HGNC Symbol;Acc:744] | MIM_DESC= | UNIGENE=Hs.521530;Hs.608756 | MIM_ID=
10	123325072	C/T	-1	13	0	C	V86M	T	FGFR2	NA	Gtg/Atg	novel	missense_variant	ENST00000351936.6:c.256G>A	ENSP00000309878.8:p.Val86Met	0.242	benign	0.21	tolerated	21	2.340	3.111	NA	NA	ENSG00000066468	ENST00000351936	ENSP00000309878	protein_coding	10_123315062	REFSEQ_P= | UNIPROT=P21802 | REFSEQ_T= | GENE_DESC=fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:3689] | MIM_DESC= SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS; BENT BONE DYSPLASIA SYNDROME; BBDS; PFEIFFER SYNDROME; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;; APERT SYNDROME; CROUZON SYNDROME; JACKSON-WEISS SYNDROME; JWS | UNIGENE=Hs.533683;Hs.607420;Hs.736928;Hs.622244 | MIM_ID=609579;149730;123790;614592;101600;207410;101200;123500;123150
10	123325072	C/T	-1	13	0	C	V86M	T	FGFR2	NA	Gtg/Atg	novel	missense_variant	ENST00000346997.2:c.256G>A	ENSP00000263451.5:p.Val86Met	0.256	benign	0.21	tolerated	21	2.340	3.111	NA	NA	ENSG00000066468	ENST00000346997	ENSP00000263451	protein_coding	10_123315062	REFSEQ_P= | UNIPROT=P21802 | REFSEQ_T= | GENE_DESC=fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:3689] | MIM_DESC= SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS; BENT BONE DYSPLASIA SYNDROME; BBDS; PFEIFFER SYNDROME; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;; APERT SYNDROME; CROUZON SYNDROME; JACKSON-WEISS SYNDROME; JWS | UNIGENE=Hs.533683;Hs.607420;Hs.736928;Hs.622244 | MIM_ID=609579;149730;123790;614592;101600;207410;101200;123500;123150
10	123325072	C/T	-1	13	0	C	V86M	T	FGFR2	CCDS44486	Gtg/Atg	novel	missense_variant	ENST00000369061.4:c.256G>A	ENSP00000358057.4:p.Val86Met	0.77	possibly damaging	0.05	tolerated	21	2.340	3.111	NA	NA	ENSG00000066468	ENST00000369061	ENSP00000358057	protein_coding	10_123315062	REFSEQ_P=NP_001138386 | UNIPROT=P21802 | REFSEQ_T=NM_001144914.1 | GENE_DESC=fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:3689] | MIM_DESC= SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS; BENT BONE DYSPLASIA SYNDROME; BBDS; PFEIFFER SYNDROME; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;; APERT SYNDROME; CROUZON SYNDROME; JACKSON-WEISS SYNDROME; JWS | UNIGENE=Hs.533683;Hs.607420;Hs.736928;Hs.622244 | MIM_ID=609579;149730;123790;614592;101600;207410;101200;123500;123150
10	123325072	C/T	-1	13	0	C	V86M	T	FGFR2	CCDS31298	Gtg/Atg	novel	missense_variant	ENST00000358487.5:c.256G>A	ENSP00000351276.5:p.Val86Met	0.355	benign	0.21	tolerated	21	2.340	3.111	NA	NA	ENSG00000066468	ENST00000358487	ENSP00000351276	protein_coding	10_123315062	REFSEQ_P=NP_000132 | UNIPROT=P21802 | REFSEQ_T=NM_000141.4 | GENE_DESC=fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:3689] | MIM_DESC= SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS; BENT BONE DYSPLASIA SYNDROME; BBDS; PFEIFFER SYNDROME; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;; APERT SYNDROME; CROUZON SYNDROME; JACKSON-WEISS SYNDROME; JWS | UNIGENE=Hs.533683;Hs.607420;Hs.736928;Hs.622244 | MIM_ID=609579;149730;123790;614592;101600;207410;101200;123500;123150
10	123325072	C/T	-1	13	0	C	V86M	T	FGFR2	NA	Gtg/Atg	novel	missense_variant	ENST00000359354.2:c.256G>A	ENSP00000352309.2:p.Val86Met	0.724	possibly damaging	0.23	tolerated	21	2.340	3.111	NA	NA	ENSG00000066468	ENST00000359354	ENSP00000352309	protein_coding	10_123315062	REFSEQ_P= | UNIPROT=P21802 | REFSEQ_T= | GENE_DESC=fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:3689] | MIM_DESC= SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS; BENT BONE DYSPLASIA SYNDROME; BBDS; PFEIFFER SYNDROME; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;; APERT SYNDROME; CROUZON SYNDROME; JACKSON-WEISS SYNDROME; JWS | UNIGENE=Hs.533683;Hs.607420;Hs.736928;Hs.622244 | MIM_ID=609579;149730;123790;614592;101600;207410;101200;123500;123150
10	123325072	C/T	-1	13	0	C	V86M	T	FGFR2	NA	Gtg/Atg	novel	missense_variant	ENST00000369058.3:c.256G>A	ENSP00000358054.3:p.Val86Met	0.242	benign	0.21	tolerated	21	2.340	3.111	NA	NA	ENSG00000066468	ENST00000369058	ENSP00000358054	protein_coding	10_123315062	REFSEQ_P= | UNIPROT=P21802 | REFSEQ_T= | GENE_DESC=fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:3689] | MIM_DESC= SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS; BENT BONE DYSPLASIA SYNDROME; BBDS; PFEIFFER SYNDROME; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;; APERT SYNDROME; CROUZON SYNDROME; JACKSON-WEISS SYNDROME; JWS | UNIGENE=Hs.533683;Hs.607420;Hs.736928;Hs.622244 | MIM_ID=609579;149730;123790;614592;101600;207410;101200;123500;123150
10	123325072	C/T	-1	13	0	C	V86M	T	FGFR2	CCDS44487	Gtg/Atg	novel	missense_variant	ENST00000369060.4:c.256G>A	ENSP00000358056.4:p.Val86Met	0.88	possibly damaging	0.07	tolerated	21	2.340	3.111	NA	NA	ENSG00000066468	ENST00000369060	ENSP00000358056	protein_coding	10_123315062	REFSEQ_P=NP_001138389 | UNIPROT=P21802 | REFSEQ_T=NM_001144917.1 | GENE_DESC=fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:3689] | MIM_DESC= SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS; BENT BONE DYSPLASIA SYNDROME; BBDS; PFEIFFER SYNDROME; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;; APERT SYNDROME; CROUZON SYNDROME; JACKSON-WEISS SYNDROME; JWS | UNIGENE=Hs.533683;Hs.607420;Hs.736928;Hs.622244 | MIM_ID=609579;149730;123790;614592;101600;207410;101200;123500;123150
10	123325072	C/T	-1	13	0	C	V86M	T	FGFR2	CCDS44489	Gtg/Atg	novel	missense_variant	ENST00000369056.1:c.256G>A	ENSP00000358052.1:p.Val86Met	0.421	benign	0.21	tolerated	21	2.340	3.111	NA	NA	ENSG00000066468	ENST00000369056	ENSP00000358052	protein_coding	10_123315062	REFSEQ_P=NP_001138385 | UNIPROT=P21802 | REFSEQ_T=NM_001144913.1 | GENE_DESC=fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:3689] | MIM_DESC= SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS; BENT BONE DYSPLASIA SYNDROME; BBDS; PFEIFFER SYNDROME; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;; APERT SYNDROME; CROUZON SYNDROME; JACKSON-WEISS SYNDROME; JWS | UNIGENE=Hs.533683;Hs.607420;Hs.736928;Hs.622244 | MIM_ID=609579;149730;123790;614592;101600;207410;101200;123500;123150
10	123325072	C/T	-1	13	0	C	V86M	T	FGFR2	CCDS7620	Gtg/Atg	novel	missense_variant	ENST00000457416.2:c.256G>A	ENSP00000410294.2:p.Val86Met	0.242	benign	0.21	tolerated	21	2.340	3.111	NA	NA	ENSG00000066468	ENST00000457416	ENSP00000410294	protein_coding	10_123315062	REFSEQ_P=NP_075259 | UNIPROT=P21802 | REFSEQ_T=NM_022970.3 | GENE_DESC=fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:3689] | MIM_DESC= SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS; BENT BONE DYSPLASIA SYNDROME; BBDS; PFEIFFER SYNDROME; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;; APERT SYNDROME; CROUZON SYNDROME; JACKSON-WEISS SYNDROME; JWS | UNIGENE=Hs.533683;Hs.607420;Hs.736928;Hs.622244 | MIM_ID=609579;149730;123790;614592;101600;207410;101200;123500;123150
11	66481177	C/T	-1	9	0	C	A233T	T	SPTBN2	CCDS8150	Gca/Aca	novel	missense_variant	ENST00000533211.1:c.697G>A	ENSP00000432568.1:p.Ala233Thr	0.862	possibly damaging	0.01	deleterious	58	4.570	0.527	NA	NA	ENSG00000173898	ENST00000533211	ENSP00000432568	protein_coding	11_66237753	REFSEQ_P= | UNIPROT=O15020 | REFSEQ_T= | GENE_DESC=spectrin, beta, non-erythrocytic 2 [Source:HGNC Symbol;Acc:11276] | MIM_DESC= SPINOCEREBELLAR ATAXIA 5; SCA5 | UNIGENE=Hs.600552;Hs.26915 | MIM_ID=600224
11	66481177	C/T	-1	9	0	C	A233T	T	SPTBN2	NA	Gca/Aca	novel	missense_variant	ENST00000529997.1:c.697G>A	ENSP00000433593.1:p.Ala233Thr	0.664	possibly damaging	0.01	deleterious	58	4.570	0.527	NA	NA	ENSG00000173898	ENST00000529997	ENSP00000433593	protein_coding	11_66237753	REFSEQ_P= | UNIPROT=O15020 | REFSEQ_T= | GENE_DESC=spectrin, beta, non-erythrocytic 2 [Source:HGNC Symbol;Acc:11276] | MIM_DESC= SPINOCEREBELLAR ATAXIA 5; SCA5 | UNIGENE=Hs.600552;Hs.26915 | MIM_ID=600224
11	66481177	C/T	-1	9	0	C	A233T	T	SPTBN2	CCDS8150	Gca/Aca	novel	missense_variant	ENST00000309996.2:c.697G>A	ENSP00000311489.2:p.Ala233Thr	0.862	possibly damaging	0.01	deleterious	58	4.570	0.527	NA	NA	ENSG00000173898	ENST00000309996	ENSP00000311489	protein_coding	11_66237753	REFSEQ_P=NP_008877 | UNIPROT=O15020 | REFSEQ_T=NM_006946.2 | GENE_DESC=spectrin, beta, non-erythrocytic 2 [Source:HGNC Symbol;Acc:11276] | MIM_DESC= SPINOCEREBELLAR ATAXIA 5; SCA5 | UNIGENE=Hs.600552;Hs.26915 | MIM_ID=600224
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000393415.3:c.341-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000393415	ENSP00000377067	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000393416.2:c.434-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000393416	ENSP00000377068	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000546048.1:c.207-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000546048	ENSP00000445222	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000537182.1:c.207-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000537182	ENSP00000443450	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000540352.1:c.341-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000540352	ENSP00000445030	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000350057.5:c.266-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000350057	ENSP00000266624	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	CCDS8986	NA	novel	splice_region_variant	ENST00000462284.1:c.359-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000462284	ENSP00000417281	protein_coding	12_67504407	REFSEQ_P=NP_002383 | UNIPROT=Q00987 | REFSEQ_T=NM_002392.4 | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000311420.9:c.225-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000311420	ENSP00000310742	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000539479.1:c.341-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000539479	ENSP00000444430	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000496959.1:c.157-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000496959	ENSP00000429692	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000481186.1:c.82-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000481186	ENSP00000431110	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000393417.3:c.*215-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000393417	ENSP00000429021	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
12	69218140	C/T	1	11	0	C	NA	T	MDM2	NA	NA	novel	splice_region_variant	ENST00000536089.1:c.207-3C>T	NA	NA	NA	NA	NA	NA	1.180	0.877	NA	NA	ENSG00000135679	ENST00000536089	ENSP00000444028	protein_coding	12_67504407	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=MDM2 oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:6973] | MIM_DESC= ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | UNIGENE=Hs.658568;Hs.484551 | MIM_ID=614401
13	28971139	T/C	-1	10	0	T	K540E	C	FLT1	CCDS9330	Aaa/Gaa	novel	missense_variant	ENST00000282397.4:c.1618A>G	ENSP00000282397.4:p.Lys540Glu	0.288	benign	0.02	deleterious	56	4.200	2.553	NA	NA	ENSG00000102755	ENST00000282397	ENSP00000282397	protein_coding	13_27869139	REFSEQ_P=NP_001153392,NP_002010 | UNIPROT=P17948 | REFSEQ_T=NM_002019.4 | GENE_DESC=fms-related tyrosine kinase 1 [Source:HGNC Symbol;Acc:3763] | MIM_DESC= | UNIGENE=Hs.658796;Hs.594454 | MIM_ID=
13	28971139	T/C	-1	10	0	T	K540E	C	FLT1	CCDS53860	Aaa/Gaa	novel	missense_variant	ENST00000541932.1:c.1618A>G	ENSP00000437631.1:p.Lys540Glu	0.908	probably damaging	0.03	deleterious	56	4.200	2.553	NA	NA	ENSG00000102755	ENST00000541932	ENSP00000437631	protein_coding	13_27869139	REFSEQ_P=NP_001153392,NP_001153502 | UNIPROT=P17948 | REFSEQ_T=NM_001160030.1 | GENE_DESC=fms-related tyrosine kinase 1 [Source:HGNC Symbol;Acc:3763] | MIM_DESC= | UNIGENE=Hs.658796;Hs.594454 | MIM_ID=
14	91365722	C/T	-1	11	0	C	C475Y	T	RPS6KA5	CCDS9893	tGt/tAt	novel	missense_variant	ENST00000261991.3:c.1424G>A	ENSP00000261991.3:p.Cys475Tyr	1	probably damaging	0.29	tolerated	194	4.500	2.831	NA	NA	ENSG00000100784	ENST00000261991	ENSP00000261991	protein_coding	14_90435475	REFSEQ_P=NP_004746 | UNIPROT=O75582 | REFSEQ_T=NM_004755.2 | GENE_DESC=ribosomal protein S6 kinase, 90kDa, polypeptide 5 [Source:HGNC Symbol;Acc:10434] | MIM_DESC= | UNIGENE=Hs.733807 | MIM_ID=
14	91365722	C/T	-1	11	0	C	C475Y	T	RPS6KA5	CCDS45149	tGt/tAt	novel	missense_variant	ENST00000418736.2:c.1424G>A	ENSP00000402787.2:p.Cys475Tyr	0.999	probably damaging	0.27	tolerated	194	4.500	2.831	NA	NA	ENSG00000100784	ENST00000418736	ENSP00000402787	protein_coding	14_90435475	REFSEQ_P=NP_872198 | UNIPROT=O75582 | REFSEQ_T=NM_182398.1 | GENE_DESC=ribosomal protein S6 kinase, 90kDa, polypeptide 5 [Source:HGNC Symbol;Acc:10434] | MIM_DESC= | UNIGENE=Hs.733807 | MIM_ID=
14	91365722	C/T	-1	11	0	C	C396Y	T	RPS6KA5	NA	tGt/tAt	novel	missense_variant	ENST00000536315.2:c.1187G>A	ENSP00000442803.2:p.Cys396Tyr	1	probably damaging	0.17	tolerated	194	4.500	2.831	NA	NA	ENSG00000100784	ENST00000536315	ENSP00000442803	protein_coding	14_90435475	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=ribosomal protein S6 kinase, 90kDa, polypeptide 5 [Source:HGNC Symbol;Acc:10434] | MIM_DESC= | UNIGENE=Hs.733807 | MIM_ID=
15	50884738	T/C	-1	11	0	T	I1232V	C	TRPM7	NA	Att/Gtt	novel	missense_variant	ENST00000560955.1:c.3694A>G	ENSP00000453277.1:p.Ile1232Val	0.051	benign	0.35	tolerated	29	3.440	2.973	NA	NA	ENSG00000092439	ENST00000560955	ENSP00000453277	protein_coding	15_48672030	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=transient receptor potential cation channel, subfamily M, member 7 [Source:HGNC Symbol;Acc:17994] | MIM_DESC= AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 | UNIGENE=Hs.734904;Hs.512894 | MIM_ID=105500
15	50884738	T/C	-1	11	0	T	I1232V	C	TRPM7	CCDS42035	Att/Gtt	novel	missense_variant	ENST00000313478.7:c.3694A>G	ENSP00000320239.7:p.Ile1232Val	0.029	benign	0.35	tolerated	29	3.440	2.973	NA	NA	ENSG00000092439	ENST00000313478	ENSP00000320239	protein_coding	15_48672030	REFSEQ_P=NP_060142 | UNIPROT=Q96QT4 | REFSEQ_T=NM_017672.4 | GENE_DESC=transient receptor potential cation channel, subfamily M, member 7 [Source:HGNC Symbol;Acc:17994] | MIM_DESC= AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 | UNIGENE=Hs.734904;Hs.512894 | MIM_ID=105500
15	64332378	T/C	-1	11	0	T	E28G	C	DAPK2	NA	gAg/gGg	novel	missense_variant	ENST00000559306.1:c.83A>G	ENSP00000452970.1:p.Glu28Gly	0.56	possibly damaging	0.08	tolerated	98	4.360	3.967	NA	NA	ENSG00000035664	ENST00000559306	ENSP00000452970	protein_coding	15_62119431	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=death-associated protein kinase 2 [Source:HGNC Symbol;Acc:2675] | MIM_DESC= | UNIGENE=Hs.237886;Hs.603282;Hs.623561 | MIM_ID=
15	64332378	T/C	-1	11	0	T	E28G	C	DAPK2	CCDS10188	gAg/gGg	novel	missense_variant	ENST00000457488.1:c.83A>G	ENSP00000408277.1:p.Glu28Gly	0.56	possibly damaging	0.12	tolerated	98	4.360	3.967	NA	NA	ENSG00000035664	ENST00000457488	ENSP00000408277	protein_coding	15_62119431	REFSEQ_P=NP_055141 | UNIPROT=Q9UIK4 | REFSEQ_T=NM_014326.3 | GENE_DESC=death-associated protein kinase 2 [Source:HGNC Symbol;Acc:2675] | MIM_DESC= | UNIGENE=Hs.237886;Hs.603282;Hs.623561 | MIM_ID=
15	64332378	T/C	-1	11	0	T	E28G	C	DAPK2	NA	gAg/gGg	novel	missense_variant	ENST00000558069.1:c.83A>G	ENSP00000453235.1:p.Glu28Gly	0.292	benign	0.01	deleterious	98	4.360	3.967	NA	NA	ENSG00000035664	ENST00000558069	ENSP00000453235	protein_coding	15_62119431	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=death-associated protein kinase 2 [Source:HGNC Symbol;Acc:2675] | MIM_DESC= | UNIGENE=Hs.237886;Hs.603282;Hs.623561 | MIM_ID=
15	64332378	T/C	-1	11	0	T	E28G	C	DAPK2	CCDS10188	gAg/gGg	novel	missense_variant	ENST00000261891.3:c.83A>G	ENSP00000261891.3:p.Glu28Gly	0.56	possibly damaging	0.12	tolerated	98	4.360	3.967	NA	NA	ENSG00000035664	ENST00000261891	ENSP00000261891	protein_coding	15_62119431	REFSEQ_P= | UNIPROT=Q9UIK4 | REFSEQ_T= | GENE_DESC=death-associated protein kinase 2 [Source:HGNC Symbol;Acc:2675] | MIM_DESC= | UNIGENE=Hs.237886;Hs.603282;Hs.623561 | MIM_ID=
15	64332378	T/C	-1	11	0	T	E28G	C	DAPK2	NA	gAg/gGg	novel	missense_variant	ENST00000561162.1:c.83A>G	ENSP00000453284.1:p.Glu28Gly	0	unknown	NA	NA	98	4.360	3.967	NA	NA	ENSG00000035664	ENST00000561162	ENSP00000453284	protein_coding	15_62119431	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=death-associated protein kinase 2 [Source:HGNC Symbol;Acc:2675] | MIM_DESC= | UNIGENE=Hs.237886;Hs.603282;Hs.623561 | MIM_ID=
15	64332378	T/C	-1	11	0	T	E28G	C	DAPK2	NA	gAg/gGg	novel	missense_variant	ENST00000559007.1:c.83A>G	ENSP00000453639.1:p.Glu28Gly	0.761	possibly damaging	0.01	deleterious	98	4.360	3.967	NA	NA	ENSG00000035664	ENST00000559007	ENSP00000453639	protein_coding	15_62119431	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=death-associated protein kinase 2 [Source:HGNC Symbol;Acc:2675] | MIM_DESC= | UNIGENE=Hs.237886;Hs.603282;Hs.623561 | MIM_ID=
17	38787079	T/C	-1	16	0	T	-289-	C	SMARCE1	NA	aA/aG	novel	incomplete_terminal_codon_variant	ENST00000478349.2:c.866A>G	ENST00000478349.2:c.866A>G(p.=)	NA	NA	NA	NA	NA	3.410	3.072	NA	NA	ENSG00000073584	ENST00000478349	ENSP00000463216	protein_coding	17_36040605	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109] | MIM_DESC= | UNIGENE=Hs.743978 | MIM_ID=
17	38787079	T/C	-1	16	0	T	K235R	C	SMARCE1	NA	aAg/aGg	novel	missense_variant	ENST00000544009.1:c.704A>G	ENSP00000441857.1:p.Lys235Arg	0.003	benign	0.42	tolerated	26	3.410	3.072	NA	NA	ENSG00000073584	ENST00000544009	ENSP00000441857	protein_coding	17_36040605	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109] | MIM_DESC= | UNIGENE=Hs.743978 | MIM_ID=
17	38787079	T/C	-1	16	0	T	K287R	C	SMARCE1	NA	aAg/aGg	novel	missense_variant	ENST00000431889.2:c.860A>G	ENSP00000445370.1:p.Lys287Arg	0.003	benign	0.5	tolerated	26	3.410	3.072	NA	NA	ENSG00000073584	ENST00000431889	ENSP00000445370	protein_coding	17_36040605	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109] | MIM_DESC= | UNIGENE=Hs.743978 | MIM_ID=
17	38787079	T/C	-1	16	0	T	K235R	C	SMARCE1	NA	aAg/aGg	novel	missense_variant	ENST00000400122.3:c.704A>G	ENSP00000411607.2:p.Lys235Arg	0.043	benign	0.17	tolerated	26	3.410	3.072	NA	NA	ENSG00000073584	ENST00000400122	ENSP00000411607	protein_coding	17_36040605	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109] | MIM_DESC= | UNIGENE=Hs.743978 | MIM_ID=
17	38787079	T/C	-1	16	0	T	K270R	C	SMARCE1	NA	aAg/aGg	novel	missense_variant	ENST00000377808.4:c.809A>G	ENSP00000367039.4:p.Lys270Arg	0.043	benign	0.16	tolerated	26	3.410	3.072	NA	NA	ENSG00000073584	ENST00000377808	ENSP00000367039	protein_coding	17_36040605	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109] | MIM_DESC= | UNIGENE=Hs.743978 | MIM_ID=
17	38787079	T/C	-1	16	0	T	K99R	C	SMARCE1	NA	aAg/aGg	novel	missense_variant	ENST00000447024.1:c.296A>G	ENSP00000392958.1:p.Lys99Arg	0.043	benign	0.1	tolerated	26	3.410	3.072	NA	NA	ENSG00000073584	ENST00000447024	ENSP00000392958	protein_coding	17_36040605	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109] | MIM_DESC= | UNIGENE=Hs.743978 | MIM_ID=
17	38787079	T/C	-1	16	0	T	K305R	C	SMARCE1	CCDS11370	aAg/aGg	novel	missense_variant	ENST00000348513.6:c.914A>G	ENSP00000323967.6:p.Lys305Arg	0.003	benign	0.41	tolerated	26	3.410	3.072	NA	NA	ENSG00000073584	ENST00000348513	ENSP00000323967	protein_coding	17_36040605	REFSEQ_P=NP_003070 | UNIPROT=Q969G3 | REFSEQ_T=NM_003079.4 | GENE_DESC=SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109] | MIM_DESC= | UNIGENE=Hs.743978 | MIM_ID=
17	38787079	T/C	-1	16	0	T	K119R	C	SMARCE1	NA	aAg/aGg	novel	missense_variant	ENST00000264640.4:c.354A>G	ENSP00000466608.1:p.Lys119Arg	0.349	benign	0.24	tolerated	26	3.410	3.072	NA	NA	ENSG00000073584	ENST00000264640	ENSP00000466608	protein_coding	17_36040605	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109] | MIM_DESC= | UNIGENE=Hs.743978 | MIM_ID=
17	38787079	T/C	-1	16	0	T	K270R	C	SMARCE1	NA	aAg/aGg	novel	missense_variant	ENST00000580419.1:c.809A>G	ENSP00000462475.1:p.Lys270Arg	0	benign	0.4	tolerated	26	3.410	3.072	NA	NA	ENSG00000073584	ENST00000580419	ENSP00000462475	protein_coding	17_36040605	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109] | MIM_DESC= | UNIGENE=Hs.743978 | MIM_ID=
17	38787079	T/C	-1	16	0	T	K235R	C	SMARCE1	NA	aAg/aGg	novel	missense_variant	ENST00000578044.1:c.704A>G	ENSP00000464511.1:p.Lys235Arg	0.003	benign	0.42	tolerated	26	3.410	3.072	NA	NA	ENSG00000073584	ENST00000578044	ENSP00000464511	protein_coding	17_36040605	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109] | MIM_DESC= | UNIGENE=Hs.743978 | MIM_ID=
17	56676661	G/T	-1	22	0	G	S682*	T	TEX14	CCDS32692	tCa/tAa	novel	stop_gained	ENST00000349033.5:c.2045C>A	ENSP00000268910.8:p.Ser682Ter	NA	NA	NA	NA	NA	3.140	1.174	NA	NA	ENSG00000121101	ENST00000349033	ENSP00000268910	protein_coding	17_54031660	REFSEQ_P=NP_112562 | UNIPROT=Q8IWB6 | REFSEQ_T=NM_031272.4 | GENE_DESC=testis expressed 14 [Source:HGNC Symbol;Acc:11737] | MIM_DESC= | UNIGENE=Hs.390221 | MIM_ID=
17	56676661	G/T	-1	22	0	G	S682*	T	TEX14	CCDS32693	tCa/tAa	novel	stop_gained	ENST00000389934.3:c.2045C>A	ENSP00000374584.3:p.Ser682Ter	NA	NA	NA	NA	NA	3.140	1.174	NA	NA	ENSG00000121101	ENST00000389934	ENSP00000374584	protein_coding	17_54031660	REFSEQ_P=NP_001188386,NP_938207 | UNIPROT=Q8IWB6 | REFSEQ_T=NM_198393.3,NM_001201457.1 | GENE_DESC=testis expressed 14 [Source:HGNC Symbol;Acc:11737] | MIM_DESC= | UNIGENE=Hs.390221 | MIM_ID=
17	56676661	G/T	-1	22	0	G	S688*	T	TEX14	CCDS56042	tCa/tAa	novel	stop_gained	ENST00000240361.8:c.2063C>A	ENSP00000240361.8:p.Ser688Ter	NA	NA	NA	NA	NA	3.140	1.174	NA	NA	ENSG00000121101	ENST00000240361	ENSP00000240361	protein_coding	17_54031660	REFSEQ_P= | UNIPROT=Q8IWB6 | REFSEQ_T= | GENE_DESC=testis expressed 14 [Source:HGNC Symbol;Acc:11737] | MIM_DESC= | UNIGENE=Hs.390221 | MIM_ID=
17	58011552	T/C	1	15	0	T	F237S	C	RPS6KB1	NA	tTt/tCt	novel	missense_variant	ENST00000406116.3:c.710T>C	ENSP00000384335.3:p.Phe237Ser	1	probably damaging	0	deleterious	155	NA	NA	NA	NA	ENSG00000108443	ENST00000406116	ENSP00000384335	protein_coding	17_55366334	REFSEQ_P=NP_001258972 | UNIPROT= | REFSEQ_T= | GENE_DESC=ribosomal protein S6 kinase, 70kDa, polypeptide 1 [Source:HGNC Symbol;Acc:10436] | MIM_DESC= | UNIGENE=Hs.706493;Hs.613833;Hs.568211;Hs.463642;Hs.604293;Hs.601380 | MIM_ID=
17	58011552	T/C	1	15	0	T	F237S	C	RPS6KB1	CCDS11621	tTt/tCt	novel	missense_variant	ENST00000225577.4:c.710T>C	ENSP00000225577.4:p.Phe237Ser	1	probably damaging	0	deleterious	155	NA	NA	NA	NA	ENSG00000108443	ENST00000225577	ENSP00000225577	protein_coding	17_55366334	REFSEQ_P=NP_001258973,NP_001258971,NP_001258989,NP_003152 | UNIPROT=P23443 | REFSEQ_T=NM_001272060.1(identity=97%/97%),NM_001272044.1(identity=94%/92%),NM_003161.2,NM_001272042.1(identity=90%/91%) | GENE_DESC=ribosomal protein S6 kinase, 70kDa, polypeptide 1 [Source:HGNC Symbol;Acc:10436] | MIM_DESC= | UNIGENE=Hs.706493;Hs.613833;Hs.568211;Hs.463642;Hs.604293;Hs.601380 | MIM_ID=
17	58011552	T/C	1	15	0	T	F214S	C	RPS6KB1	NA	tTt/tCt	novel	missense_variant	ENST00000443572.2:c.641T>C	ENSP00000441993.1:p.Phe214Ser	1	probably damaging	0	deleterious	155	NA	NA	NA	NA	ENSG00000108443	ENST00000443572	ENSP00000441993	protein_coding	17_55366334	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=ribosomal protein S6 kinase, 70kDa, polypeptide 1 [Source:HGNC Symbol;Acc:10436] | MIM_DESC= | UNIGENE=Hs.706493;Hs.613833;Hs.568211;Hs.463642;Hs.604293;Hs.601380 | MIM_ID=
17	58011552	T/C	1	15	0	T	F184S	C	RPS6KB1	NA	tTt/tCt	novel	missense_variant	ENST00000393021.3:c.551T>C	ENSP00000376744.3:p.Phe184Ser	1	probably damaging	0	deleterious	155	NA	NA	NA	NA	ENSG00000108443	ENST00000393021	ENSP00000376744	protein_coding	17_55366334	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=ribosomal protein S6 kinase, 70kDa, polypeptide 1 [Source:HGNC Symbol;Acc:10436] | MIM_DESC= | UNIGENE=Hs.706493;Hs.613833;Hs.568211;Hs.463642;Hs.604293;Hs.601380 | MIM_ID=
18	39595462	C/T	1	15	0	C	L450F	T	PIK3C3	CCDS11920	Ctt/Ttt	novel	missense_variant	ENST00000262039.4:c.1348C>T	ENSP00000262039.3:p.Leu450Phe	0.003	benign	0.52	tolerated	22	2.460	2.758	NA	NA	ENSG00000078142	ENST00000262039	ENSP00000262039	protein_coding	18_37849460	REFSEQ_P=NP_002638 | UNIPROT=Q8NEB9 | REFSEQ_T=NM_002647.2 | GENE_DESC=phosphatidylinositol 3-kinase, catalytic subunit type 3 [Source:HGNC Symbol;Acc:8974] | MIM_DESC= | UNIGENE=Hs.656958;Hs.464971 | MIM_ID=
18	39595462	C/T	1	15	0	C	L387F	T	PIK3C3	NA	Ctt/Ttt	novel	missense_variant	ENST00000398870.3:c.1159C>T	ENSP00000381845.2:p.Leu387Phe	0.002	benign	0.7	tolerated	22	2.460	2.758	NA	NA	ENSG00000078142	ENST00000398870	ENSP00000381845	protein_coding	18_37849460	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=phosphatidylinositol 3-kinase, catalytic subunit type 3 [Source:HGNC Symbol;Acc:8974] | MIM_DESC= | UNIGENE=Hs.656958;Hs.464971 | MIM_ID=
18	45423074	C/T	-1	15	0	C	W18*	T	SMAD2	NA	tgG/tgA	novel	stop_gained	ENST00000587421.1:c.54G>A	ENSP00000468202.1:p.Trp18Ter	NA	NA	NA	NA	NA	4.420	3.576	NA	NA	ENSG00000175387	ENST00000587421	ENSP00000468202	protein_coding	18_43677072	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SMAD family member 2 [Source:HGNC Symbol;Acc:6768] | MIM_DESC= | UNIGENE=Hs.12253;Hs.705764;Hs.702196;Hs.625113;Hs.629015;Hs.617511;Hs.741342 | MIM_ID=
18	45423074	C/T	-1	15	0	C	W18*	T	SMAD2	CCDS11934	tgG/tgA	novel	stop_gained	ENST00000402690.2:c.54G>A	ENSP00000384449.1:p.Trp18Ter	NA	NA	NA	NA	NA	4.420	3.576	NA	NA	ENSG00000175387	ENST00000402690	ENSP00000384449	protein_coding	18_43677072	REFSEQ_P=NP_001003652 | UNIPROT=Q15796 | REFSEQ_T=NM_001003652.3 | GENE_DESC=SMAD family member 2 [Source:HGNC Symbol;Acc:6768] | MIM_DESC= | UNIGENE=Hs.12253;Hs.705764;Hs.702196;Hs.625113;Hs.629015;Hs.617511;Hs.741342 | MIM_ID=
18	45423074	C/T	-1	15	0	C	W18*	T	SMAD2	NA	tgG/tgA	novel	stop_gained	ENST00000585978.1:c.54G>A	ENSP00000468732.1:p.Trp18Ter	NA	NA	NA	NA	NA	4.420	3.576	NA	NA	ENSG00000175387	ENST00000585978	ENSP00000468732	protein_coding	18_43677072	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SMAD family member 2 [Source:HGNC Symbol;Acc:6768] | MIM_DESC= | UNIGENE=Hs.12253;Hs.705764;Hs.702196;Hs.625113;Hs.629015;Hs.617511;Hs.741342 | MIM_ID=
18	45423074	C/T	-1	15	0	C	W18*	T	SMAD2	CCDS11934	tgG/tgA	novel	stop_gained	ENST00000262160.6:c.54G>A	ENSP00000262160.6:p.Trp18Ter	NA	NA	NA	NA	NA	4.420	3.576	NA	NA	ENSG00000175387	ENST00000262160	ENSP00000262160	protein_coding	18_43677072	REFSEQ_P=NP_005892 | UNIPROT=Q15796 | REFSEQ_T=NM_005901.5 | GENE_DESC=SMAD family member 2 [Source:HGNC Symbol;Acc:6768] | MIM_DESC= | UNIGENE=Hs.12253;Hs.705764;Hs.702196;Hs.625113;Hs.629015;Hs.617511;Hs.741342 | MIM_ID=
18	45423074	C/T	-1	15	0	C	W18*	T	SMAD2	NA	tgG/tgA	novel	stop_gained	ENST00000586514.1:c.54G>A	ENSP00000465355.1:p.Trp18Ter	NA	NA	NA	NA	NA	4.420	3.576	NA	NA	ENSG00000175387	ENST00000586514	ENSP00000465355	protein_coding	18_43677072	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SMAD family member 2 [Source:HGNC Symbol;Acc:6768] | MIM_DESC= | UNIGENE=Hs.12253;Hs.705764;Hs.702196;Hs.625113;Hs.629015;Hs.617511;Hs.741342 | MIM_ID=
18	45423074	C/T	-1	15	0	C	W18*	T	SMAD2	NA	tgG/tgA	novel	stop_gained	ENST00000591214.1:c.54G>A	ENSP00000467075.1:p.Trp18Ter	NA	NA	NA	NA	NA	4.420	3.576	NA	NA	ENSG00000175387	ENST00000591214	ENSP00000467075	protein_coding	18_43677072	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SMAD family member 2 [Source:HGNC Symbol;Acc:6768] | MIM_DESC= | UNIGENE=Hs.12253;Hs.705764;Hs.702196;Hs.625113;Hs.629015;Hs.617511;Hs.741342 | MIM_ID=
18	45423074	C/T	-1	15	0	C	W18*	T	SMAD2	NA	tgG/tgA	novel	stop_gained	ENST00000356825.4:c.54G>A	ENSP00000349282.4:p.Trp18Ter	NA	NA	NA	NA	NA	4.420	3.576	NA	NA	ENSG00000175387	ENST00000356825	ENSP00000349282	protein_coding	18_43677072	REFSEQ_P=NP_001129409 | UNIPROT=Q15796 | REFSEQ_T=NM_001135937.2 | GENE_DESC=SMAD family member 2 [Source:HGNC Symbol;Acc:6768] | MIM_DESC= | UNIGENE=Hs.12253;Hs.705764;Hs.702196;Hs.625113;Hs.629015;Hs.617511;Hs.741342 | MIM_ID=
18	45423074	C/T	-1	15	0	C	W18*	T	SMAD2	NA	tgG/tgA	novel	stop_gained	ENST00000589877.1:c.54G>A	ENSP00000465971.1:p.Trp18Ter	NA	NA	NA	NA	NA	4.420	3.576	NA	NA	ENSG00000175387	ENST00000589877	ENSP00000465971	protein_coding	18_43677072	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SMAD family member 2 [Source:HGNC Symbol;Acc:6768] | MIM_DESC= | UNIGENE=Hs.12253;Hs.705764;Hs.702196;Hs.625113;Hs.629015;Hs.617511;Hs.741342 | MIM_ID=
18	45423074	C/T	-1	15	0	C	W18*	T	SMAD2	NA	tgG/tgA	novel	stop_gained	ENST00000586040.1:c.54G>A	ENSP00000466193.1:p.Trp18Ter	NA	NA	NA	NA	NA	4.420	3.576	NA	NA	ENSG00000175387	ENST00000586040	ENSP00000466193	protein_coding	18_43677072	REFSEQ_P= | UNIPROT=Q15796 | REFSEQ_T= | GENE_DESC=SMAD family member 2 [Source:HGNC Symbol;Acc:6768] | MIM_DESC= | UNIGENE=Hs.12253;Hs.705764;Hs.702196;Hs.625113;Hs.629015;Hs.617511;Hs.741342 | MIM_ID=
18	45423074	C/T	-1	15	0	C	W18*	T	SMAD2	NA	tgG/tgA	novel	stop_gained	ENST00000587269.1:c.54G>A	ENSP00000466254.1:p.Trp18Ter	NA	NA	NA	NA	NA	4.420	3.576	NA	NA	ENSG00000175387	ENST00000587269	ENSP00000466254	protein_coding	18_43677072	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=SMAD family member 2 [Source:HGNC Symbol;Acc:6768] | MIM_DESC= | UNIGENE=Hs.12253;Hs.705764;Hs.702196;Hs.625113;Hs.629015;Hs.617511;Hs.741342 | MIM_ID=
18	59195357	G/A	1	17	0	G	G392D	A	CDH20	CCDS11977	gGc/gAc	novel	missense_variant	ENST00000538374.1:c.1175G>A	ENSP00000442226.1:p.Gly392Asp	0.08	benign	0.18	tolerated	94	1.750	2.105	NA	NA	ENSG00000101542	ENST00000538374	ENSP00000442226	protein_coding	18_57346337	REFSEQ_P= | UNIPROT=Q9HBT6 | REFSEQ_T= | GENE_DESC=cadherin 20, type 2 [Source:HGNC Symbol;Acc:1760] | MIM_DESC= | UNIGENE=Hs.671510 | MIM_ID=
18	59195357	G/A	1	17	0	G	G392D	A	CDH20	CCDS11977	gGc/gAc	novel	missense_variant	ENST00000536675.2:c.1175G>A	ENSP00000444767.1:p.Gly392Asp	0.08	benign	0.18	tolerated	94	1.750	2.105	NA	NA	ENSG00000101542	ENST00000536675	ENSP00000444767	protein_coding	18_57346337	REFSEQ_P=NP_114097 | UNIPROT=Q9HBT6 | REFSEQ_T=NM_031891.2 | GENE_DESC=cadherin 20, type 2 [Source:HGNC Symbol;Acc:1760] | MIM_DESC= | UNIGENE=Hs.671510 | MIM_ID=
18	59195357	G/A	1	17	0	G	G392D	A	CDH20	CCDS11977	gGc/gAc	novel	missense_variant	ENST00000262717.4:c.1175G>A	ENSP00000262717.3:p.Gly392Asp	0.08	benign	0.18	tolerated	94	1.750	2.105	NA	NA	ENSG00000101542	ENST00000262717	ENSP00000262717	protein_coding	18_57346337	REFSEQ_P= | UNIPROT=Q9HBT6 | REFSEQ_T= | GENE_DESC=cadherin 20, type 2 [Source:HGNC Symbol;Acc:1760] | MIM_DESC= | UNIGENE=Hs.671510 | MIM_ID=
21	38884310	C/T	1	10	0	C	H581Y	T	DYRK1A	CCDS13653	Cat/Tat	novel	missense_variant	ENST00000339659.3:c.1741C>T	ENSP00000340373.3:p.His581Tyr	0.925	probably damaging	0.1	tolerated	83	4.200	3.286	NA	NA	ENSG00000157540	ENST00000339659	ENSP00000340373	protein_coding	21_37806180	REFSEQ_P=NP_569120 | UNIPROT=Q13627 | REFSEQ_T=NM_130436.2 | GENE_DESC=dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A [Source:HGNC Symbol;Acc:3091] | MIM_DESC= MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7 | UNIGENE=Hs.719974;Hs.368240 | MIM_ID=614104
21	38884310	C/T	1	10	0	C	H362Y	T	DYRK1A	NA	Cat/Tat	novel	missense_variant	ENST00000455387.2:c.1084C>T	ENSP00000407854.2:p.His362Tyr	0.842	possibly damaging	0.17	tolerated	83	4.200	3.286	NA	NA	ENSG00000157540	ENST00000455387	ENSP00000407854	protein_coding	21_37806180	REFSEQ_P= | UNIPROT= | REFSEQ_T= | GENE_DESC=dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A [Source:HGNC Symbol;Acc:3091] | MIM_DESC= MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7 | UNIGENE=Hs.719974;Hs.368240 | MIM_ID=614104
21	38884310	C/T	1	10	0	C	H590Y	T	DYRK1A	CCDS42925	Cat/Tat	novel	missense_variant	ENST00000398960.2:c.1768C>T	ENSP00000381932.2:p.His590Tyr	0.842	possibly damaging	0.3	tolerated	83	4.200	3.286	NA	NA	ENSG00000157540	ENST00000398960	ENSP00000381932	protein_coding	21_37806180	REFSEQ_P=NP_569122,NP_001387 | UNIPROT=Q13627 | REFSEQ_T=NM_001396.3,NM_130438.2 | GENE_DESC=dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A [Source:HGNC Symbol;Acc:3091] | MIM_DESC= MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7 | UNIGENE=Hs.719974;Hs.368240 | MIM_ID=614104
#END