R E S U L T S

VARIANT RANKER RESULTS

Chr	Start	End	Ref	Alt	Func_refGene	Gene_refGene	GeneDetail_refGene	ExonicFunc_refGene	Func_ensGene	Gene_ensGene	GeneDetail_ensGene	ExonicFunc_ensGene	phastConsElements46way	gwasCatalog	cytoband	tfbsConsSites	wgEncodeRegTfbsClustered	wgEncodeRegDnaseClustered	evofold	snp138	1000g2014sep_all	1000g2014sep_eur	1000g2014sep_eas	1000g2014sep_amr	1000g2014sep_afr	1000g2014sep_sas	ExAC	popfreq_max	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	CADD_raw	CADD_phred	GERP_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	cadd	caddgt10	avsift	esp6500_ea	esp6500_aa	cosmic67	cg69	clinvar_20140929	rank_score
1	155264120	155264120	C	G	exonic	PKLR	NA	nonsynonymous SNV	exonic	ENSG00000143627	NA	nonsynonymous SNV	Score=487;Name=lod=127	NA	1q22	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	3.015	M	-7.15	D	0.962	D	0.993	D	4.83	27.4	4.94	2.723	7.562	16.046	4.829821	4.829821	0.02	NA	NA	NA	NA	NA	21.3333334
12	57569339	57569339	G	A	exonic	LRP1	NA	nonsynonymous SNV	exonic	ENSG00000123384	NA	nonsynonymous SNV	Score=502;Name=lod=146	NA	12q13.3	Score=754;Name=V$HEN1_02	NA	Name=133	NA	rs35890409	0.00179712	0.005	NA	0.0029	0.0008	0.001	0.0035	0.0045	1	T	1.0	D	0.998	D	0.000	D	1.000	D	1.525	L	-3.96	D	0.658	D	0.877	D	3.324	17.18	3.94	2.537	3.214	15.302	3.323544	3.323544	0.1	0.004535	0.001589	NA	NA	NA	20.3202984
11	78433746	78433746	G	A	exonic	TENM4	NA	nonsynonymous SNV	exonic	ENSG00000149256	NA	nonsynonymous SNV	Score=586;Name=lod=321	NA	11q14.1	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	.	.	0.518	P	0.115	B	0.000	D	1.000	D	2.08	M	-2.58	D	0.134	D	0.625	D	4.131	21.3	5.64	2.937	9.397	19.895	4.131477	4.131477	0.03	NA	NA	NA	NA	NA	18.8333334
17	61497577	61497577	G	A	exonic	TANC2	NA	nonsynonymous SNV	exonic	ENSG00000170921	NA	nonsynonymous SNV	Score=604;Name=lod=381	NA	17q23.3	NA	Name=ZBTB7A_(SC-34508)	Name=3	NA	NA	NA	NA	NA	NA	NA	NA	0	NA	0.03	D	0.992	D	0.905	P	0.000	D	1.000	D	0.345	N	-0.44	T	-0.430	T	0.283	T	4.742	26.5	4.39	1.217	9.476	15.073	4.741708	4.741708	0	NA	NA	NA	NA	NA	18.8333334
11	78433753	78433753	T	C	exonic	TENM4	NA	nonsynonymous SNV	exonic	ENSG00000149256	NA	nonsynonymous SNV	Score=586;Name=lod=321	NA	11q14.1	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	.	.	0.913	P	0.891	P	0.000	D	1.000	D	0.935	L	-2.66	D	0.430	D	0.727	D	4.662	25.7	5.64	2.367	7.659	16.024	4.662226	4.662226	0.07	NA	NA	NA	NA	NA	18.3333334
1	155260382	155260382	C	T	exonic	PKLR	NA	nonsynonymous SNV	exonic	ENSG00000143627	NA	nonsynonymous SNV	Score=594;Name=lod=347	NA	1q22	NA	NA	NA	NA	rs61755431	0.000599042	0.003	NA	NA	NA	NA	0.001	0.004	0.05	D	0.982	D	0.428	B	0.000	D	1.000	D	1.845	L	-5.52	D	0.903	D	0.897	D	3.934	20.1	4.54	2.513	4.705	8.703	3.934272	3.934272	0.04	0.001628	0	NA	NA	NA	18.3277054
15	22864369	22864369	G	A	exonic	TUBGCP5	NA	nonsynonymous SNV	exonic	ENSG00000153575	NA	nonsynonymous SNV	Score=336;Name=lod=31	NA	15q11.2	Score=787;Name=V$CMYB_01	NA	NA	NA	rs138440581	NA	NA	NA	NA	NA	NA	0.0002	0.0002	0.06	T	1.0	D	0.994	D	0.000	D	1.000	D	1.5	L	3.1	T	-1.178	T	0.046	T	3.89	19.77	3.11	0.809	5.281	9.999	3.88977	3.88977	0.02	0.000233	0.000227	NA	NA	NA	15.3329004
6	29408571	29408571	G	T	exonic	OR10C1	NA	nonsynonymous SNV	exonic	ENSG00000206474	NA	nonsynonymous SNV	Score=325;Name=lod=28	NA	6p22.1	NA	NA	NA	NA	rs145984332	NA	NA	NA	NA	NA	NA	0.0004	0.0006	0.03	D	1.0	D	0.996	D	0.026	N	1.000	N	2.335	M	1.24	T	-1.012	T	0.139	T	2.951	15.84	3.35	1.716	-0.150	12.275	2.951306	2.951306	0	0.000554	0.000331	NA	NA	NA	14.3323794
19	3179884	3179884	G	T	exonic	S1PR4	NA	nonsynonymous SNV	exonic	ENSG00000125910	NA	nonsynonymous SNV	NA	NA	19p13.3	NA	Name=NRSF	Name=6	NA	rs3746072	0.00758786	0.004	0.0188	0.0072	NA	0.0102	0.0073	0.022	0.52	T	0.956	P	0.421	B	0.430	N	1.000	N	0.895	L	-1.51	D	-0.848	T	0.191	T	0.576	7.111	3.94	2.053	1.196	11.574	0.576106	NA	0.12	0.007233	0.000927	NA	0.014	NA	13.8148004
17	61417560	61417560	G	T	exonic	TANC2	NA	nonsynonymous SNV	exonic	ENSG00000170921	NA	nonsynonymous SNV	Score=371;Name=lod=43	NA	17q23.3	Score=917;Name=V$TGIF_01	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.000008282	NA	0.05	D	0.074	B	0.085	B	0.000	D	0.985	D	1.04	L	-0.39	T	-0.900	T	0.171	T	2.024	12.72	1.65	0.587	0.703	6.912	2.023554	2.023554	0.01	NA	NA	NA	NA	NA	13.3333251
14	64687258	64687258	A	T	exonic	SYNE2	NA	nonsynonymous SNV	exonic	ENSG00000054654	NA	nonsynonymous SNV	NA	NA	14q23.2	NA	Name=MafF_(M8194),MafK_(ab50322),MafK_(SC-477)	Name=21	NA	rs149978500	0.00139776	0.004	NA	0.0029	NA	0.001	0.0022	0.011	0	D	0.313	B	0.292	B	0.819	N	1.000	D	1.95	M	0.55	T	-0.893	T	0.176	T	0.461	6.504	2.37	0.147	0.924	4.714	0.461194	NA	0	0.002674	0.000681	NA	0.007	NA	13.3244594
6	29408600	29408600	G	T	exonic	OR10C1	NA	nonsynonymous SNV	exonic	ENSG00000206474	NA	nonsynonymous SNV	NA	NA	6p22.1	NA	NA	NA	NA	rs72482089	0.00279553	0.005	NA	0.013	NA	NA	0.0037	0.01	0.01	D	1.0	D	1.0	D	0.001	N	0.797	N	3.27	M	8.42	T	-1.020	T	0.001	T	2.716	15.04	3.54	1.812	0.248	8.931	2.715895	2.715895	0	0.002584	0.000993	NA	NA	NA	13.3220494
16	320583	320583	C	T	exonic	RGS11	NA	nonsynonymous SNV	exonic	ENSG00000076344	NA	nonsynonymous SNV	NA	NA	16p13.3	Score=809;Name=V$TAXCREB_02	NA	NA	NA	rs72765828	0.00159744	0.008	NA	NA	NA	NA	0.0021	0.01	0	D	0.975	D	0.659	P	0.235	N	1.000	N	0.55	N	4.54	T	-0.938	T	0.005	T	2.981	15.94	-2.8	-0.585	-1.027	5.277	2.981064	2.981064	0.01	0.001977	0.000455	NA	0.036	NA	12.8212564
14	94088734	94088734	G	A	exonic	UNC79	NA	nonsynonymous SNV	exonic	ENSG00000133958	NA	nonsynonymous SNV	Score=300;Name=lod=22	NA	14q32.12	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.000008273	NA	0.36	T	0.003	B	0.003	B	0.014	N	0.885	N	0.205	N	2.18	T	-1.056	T	0.027	T	-0.411	2.082	5.06	2.351	4.029	9.266	-0.410584	NA	0.17	NA	NA	NA	NA	NA	12.3333251
19	3179427	3179427	G	A	exonic	S1PR4	NA	nonsynonymous SNV	exonic	ENSG00000125910	NA	nonsynonymous SNV	Score=313;Name=lod=25	NA	19p13.3	NA	Name=ELF1_(SC-631),Pol2	Name=12	NA	rs143964699	0.00259585	0.008	NA	0.0043	NA	0.002	0.0064	0.01	0.69	T	0.676	P	0.202	B	0.075	N	0.817	N	0.46	N	-0.63	T	-0.979	T	0.087	T	-1.52	0.016	1.22	0.747	2.435	3.784	-1.519933	NA	1	0.00407	0.001589	NA	NA	NA	11.8148634
15	22853786	22853786	C	T	exonic	TUBGCP5	NA	nonsynonymous SNV	exonic	ENSG00000153575	NA	nonsynonymous SNV	Score=436;Name=lod=79	NA	15q11.2	NA	NA	NA	NA	rs139868545	NA	NA	NA	NA	NA	NA	0.0003	0.0013	0.42	T	0.921	P	0.5	P	0.002	N	0.755	D	0.69	N	3.35	T	-0.881	T	0.014	T	1.85	12.15	1.58	0.041	1.557	8.458	1.850286	1.850286	0.22	0.000349	0.000227	NA	NA	NA	11.3326844
16	320629	320629	C	T	exonic	RGS11	NA	nonsynonymous SNV	exonic	ENSG00000076344	NA	nonsynonymous SNV	Score=496;Name=lod=138	NA	16p13.3	NA	NA	NA	NA	rs77654034	0.00159744	0.008	NA	NA	NA	NA	0.0022	0.01	1	T	0.325	B	0.252	B	0.000	N	1.000	D	0.36	N	4.65	T	-0.882	T	0.003	T	0.272	5.47	3.15	0.680	2.193	9.967	0.271703	NA	1	0.002093	0.000456	NA	0.036	NA	11.3210404
14	94088266	94088266	G	A	exonic	UNC79	NA	nonsynonymous SNV	exonic	ENSG00000133958	NA	nonsynonymous SNV	Score=361;Name=lod=39	NA	14q32.12	NA	NA	NA	NA	rs78490074	0.00139776	0.005	NA	0.0014	NA	0.001	0.0036	0.01	0.72	T	0.001	B	0.002	B	0.000	N	0.512	N	0.895	L	2.18	T	-1.038	T	0.024	T	0.936	8.815	4.16	0.865	5.281	12.273	0.936078	NA	0.5	0.003488	0.000908	NA	NA	NA	10.3212454
17	76447713	76447713	C	A	exonic	DNAH17	NA	nonsynonymous SNV	exonic	ENSG00000187775	NA	nonsynonymous SNV	NA	NA	17q25.3	NA	NA	NA	NA	rs140747982	0.000599042	NA	NA	NA	NA	0.0031	0.0009	0.0006	1	T	0.0	B	0.001	B	0.352	N	1.000	N	-1.2	N	1.8	T	-1.057	T	0.014	T	-1.547	0.015	-10.4	-2.995	-2.250	7.701	-1.546869	NA	1	0.000581	0.000227	NA	NA	NA	9.3318524
12	53445677	53445677	T	C	exonic	TENC1	NA	synonymous SNV	exonic	ENSG00000111077	NA	synonymous SNV	Score=569;Name=lod=275	NA	12q13.13	Score=796;Name=V$STAT1_01	Name=CEBPB	NA	NA	rs147085802	0.00359425	0.006	NA	0.0072	0.0008	0.0061	0.0037	0.01	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1.780308	1.780308	NA	0.005	0.001362	NA	NA	NA	8.6519666
12	53457585	53457585	C	T	exonic	TENC1	NA	synonymous SNV	exonic	ENSG00000111077	NA	synonymous SNV	Score=623;Name=lod=455	NA	12q13.13	NA	Name=CTCF	NA	NA	rs117928258	0.00319489	0.0089	NA	0.0072	NA	0.002	0.0059	0.01	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.851055	NA	NA	0.008023	0.001816	NA	NA	NA	7.6438436
12	57560777	57560777	G	A	exonic	LRP1	NA	synonymous SNV	exonic	ENSG00000123384	NA	synonymous SNV	NA	NA	12q13.3	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.00006593	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.685704	NA	NA	NA	NA	NA	NA	NA	6.6666007
17	76557994	76557994	T	C	exonic	DNAH17	NA	synonymous SNV	exonic	ENSG00000187775	NA	synonymous SNV	NA	NA	17q25.3	Score=772;Name=V$PAX6_01	NA	NA	NA	rs139704186	0.000599042	0.002	NA	NA	0.0008	NA	0.0034	0.0055	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1.000386	NA	NA	0.005465	0.000454	NA	NA	NA	6.6558016
14	64548193	64548193	T	C	exonic	SYNE2	NA	synonymous SNV	exonic	ENSG00000054654	NA	synonymous SNV	NA	NA	14q23.2	NA	Name=STAT3,MafK_(ab50322)	NA	NA	rs149391344	0.00199681	0.0089	NA	NA	NA	0.001	0.0037	0.011	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	-0.803677	NA	NA	0.003721	0.001362	NA	0.007	NA	6.6503456
17	79171966	79171966	C	T	exonic	AZI1	NA	synonymous SNV	exonic	ENSG00000141577	NA	synonymous SNV	Score=340;Name=lod=32	NA	17q25.3	NA	NA	NA	NA	rs117891655	0.00219649	0.007	NA	0.0058	NA	NA	0.0078	0.01	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	-0.423398	NA	NA	0.004783	0.001148	NA	NA	NA	6.6470836
17	79182769	79182769	G	A	exonic	AZI1	NA	synonymous SNV	exonic	ENSG00000141577	NA	synonymous SNV	Score=431;Name=lod=75	NA	17q25.3	NA	NA	NA	NA	rs147013250	0.00239617	0.0109	NA	0.0014	NA	NA	0.0058	0.01	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	-0.969591	NA	NA	0.008372	0.00227	NA	NA	NA	6.6415946
10	97916272	97916272	C	T	exonic	ZNF518A	NA	unknown	ncRNA_exonic	ENSG00000177853	NA	NA	Score=500;Name=lod=144	NA	10q24.1	NA	NA	NA	NA	rs200299587	0.000199681	0.001	NA	NA	NA	NA	0.0005	0.001	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	2.471395	2.471395	0	0.000983	0	NA	NA	NA	5.8308503
10	97917556	97917556	G	C	exonic	ZNF518A	NA	unknown	ncRNA_exonic	ENSG00000177853	NA	NA	Score=278;Name=lod=18	NA	10q24.1	NA	NA	NA	NA	rs41291602	0.000599042	0.002	NA	NA	NA	0.001	0.0029	0.0034	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.569141	NA	0	0.003417	0.001084	NA	NA	NA	5.8250163