#Uploaded_variation	Location	Allele	Gene	Feature	Feature_type	Consequence	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	Existing_variation	IMPACT	DISTANCE	STRAND	FLAGS	VARIANT_CLASS	SYMBOL	SYMBOL_SOURCE	HGNC_ID	BIOTYPE	CANONICAL	TSL	APPRIS	CCDS	ENSP	SWISSPROT	TREMBL	UNIPARC	GENE_PHENO	SIFT	PolyPhen	EXON	INTRON	DOMAINS	AF	AFR_AF	AMR_AF	EAS_AF	EUR_AF	SAS_AF	AA_AF	EA_AF	gnomAD_AF	gnomAD_AFR_AF	gnomAD_AMR_AF	gnomAD_ASJ_AF	gnomAD_EAS_AF	gnomAD_FIN_AF	gnomAD_NFE_AF	gnomAD_OTH_AF	gnomAD_SAS_AF	MAX_AF	MAX_AF_POPS	CLIN_SIG	SOMATIC	PHENO	PUBMED	MOTIF_NAME	MOTIF_POS	HIGH_INF_POS	MOTIF_SCORE_CHANGE	rc_ref_normal	rc_alt_normal	af_normal	cov_normal	rc_ref_tumor	rc_alt_tumor	af_tumor	cov_tumor
.	1:224227605	G	ENSG00000143748	ENST00000281701	Transcript	3_prime_UTR_variant	2852	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	NVL	HGNC	HGNC:8070	protein_coding	YES	1	P3	CCDS1541.1	ENSP00000281701	O15381	NA	UPI0000073F3E	NA	NA	NA	23/23	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	NA	NA	NA	NA	43	0	0	43	95	10	0.095238	105
.	7:48275838	G	ENSG00000179869	ENST00000435803	Transcript	missense_variant	6196	6172	2058	L/V	Cta/Gta	COSM453174,COSM453173	MODERATE	NA	1	NA	SNV	ABCA13	HGNC	HGNC:14638	protein_coding	YES	1	P1	CCDS47584.1	ENSP00000411096	NA	A0A0A0MT16	UPI00043788D8	NA	deleterious(0.03)	possibly_damaging(0.544)	17/62	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	78	0	0	78	95	25	0.208333	120
.	19:16904323	G	ENSG00000160111	ENST00000443236	Transcript	missense_variant	4327	4295	1432	L/P	cTg/cCg	COSM438857	MODERATE	NA	-1	NA	SNV	CPAMD8	HGNC	HGNC:23228	protein_coding	YES	1	P1	CCDS42519.1	ENSP00000402505	Q8IZJ3	NA	UPI0000E8AC99	1	deleterious(0)	probably_damaging(0.989)	32/42	NA	Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239,Low_complexity_(Seg):seg	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	65	0	0	65	56	11	0.164179	67
.	6:167826083	T	ENSG00000130396	ENST00000366806	Transcript	upstream_gene_variant	NA	NA	NA	NA	NA	NA	MODIFIER	1552	1	NA	SNV	AFDN	HGNC	HGNC:7137	protein_coding	YES	1	A2	CCDS78199.1	ENSP00000355771	NA	A8MQ02	UPI00045D52FC	1	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	NA	NA	NA	NA	NA	NA	NA	45	0	0	45	21	19	0.475	40
.	22:32235047	T	ENSG00000100191	ENST00000266086	Transcript	synonymous_variant	723	711	237	V	gtG/gtA	NA	LOW	NA	-1	NA	SNV	SLC5A4	HGNC	HGNC:11039	protein_coding	YES	1	P1	CCDS13903.1	ENSP00000266086	Q9NY91	NA	UPI00001359F4	NA	NA	NA	8/15	NA	PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF112,hmmpanther:PTHR11819,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	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	NA	NA	134	0	0	134	52	55	0.514019	107
.	3:38092239	G	ENSG00000008226	ENST00000308059	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	DLEC1	HGNC	HGNC:2899	protein_coding	YES	1	P2	CCDS2672.2	ENSP00000308597	Q9Y238	NA	UPI00006EB134	1	NA	NA	NA	10/36	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	NA	NA	NA	107	0	0	107	118	40	0.253165	158
.	3:141066551	G	ENSG00000175093	ENST00000310546	Transcript	synonymous_variant	1191	447	149	L	ctC/ctG	NA	LOW	NA	1	NA	SNV	SPSB4	HGNC	HGNC:30630	protein_coding	YES	1	P1	CCDS3115.1	ENSP00000311609	Q96A44	NA	UPI00000734A4	NA	NA	NA	2/3	NA	PDB-ENSP_mappings:2v24.A,Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF3,SMART_domains:SM00449,Superfamily_domains:SSF49899	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	NA	NA	12	0	0	12	13	3	0.1875	16
.	3:179210291	A	ENSG00000121879	ENST00000263967	Transcript	missense_variant	1514	1357	453	E/K	Gaa/Aaa	COSM758,COSM446007,COSM12584,COSM1041484	MODERATE	NA	1	NA	SNV	PIK3CA	HGNC	HGNC:8975	protein_coding	YES	2	P1	CCDS43171.1	ENSP00000263967	P42336	NA	UPI000013D494	1	tolerated(0.06)	possibly_damaging(0.655)	8/21	NA	Gene3D:2.60.40.150,PDB-ENSP_mappings:2enq.A,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:3zim.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5dxt.A,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5ubr.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,Pfam_domain:PF00792,PROSITE_profiles:PS51547,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF54,Superfamily_domains:SSF49562	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1,1	1,1,1,1	NA	NA	NA	NA	NA	191	0	0	191	205	108	0.345048	313
rs104886003	3:179218303	A	ENSG00000121879	ENST00000263967	Transcript	missense_variant	1790	1633	545	E/K	Gag/Aag	CM126692,rs104886003,COSM763,COSM295672,COSM27133,COSM125370	MODERATE	NA	1	NA	SNV	PIK3CA	HGNC	HGNC:8975	protein_coding	YES	2	P1	CCDS43171.1	ENSP00000263967	P42336	NA	UPI000013D494	1	deleterious(0.02)	probably_damaging(0.909)	10/21	NA	Gene3D:1.25.40.70,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:3zim.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5dxt.A,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5ubr.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,Pfam_domain:PF00613,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF54,SMART_domains:SM00145,Superfamily_domains:SSF48371	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	not_provided,likely_pathogenic,pathogenic	0,1,1,1,1,1	1,1,1,1,1,1	21264207,15520168,15608678,17673550,22729223,22729224,23946963	NA	NA	NA	NA	139	0	0	139	136	72	0.346154	208
.	3:184186623	T	ENSG00000161204	ENST00000429586	Transcript	missense_variant	375	190	64	V/L	Gtg/Ttg	NA	MODERATE	NA	1	NA	SNV	ABCF3	HGNC	HGNC:72	protein_coding	YES	1	P1	CCDS3254.1	ENSP00000411471	Q9NUQ8	A0A0S2Z5L1	UPI000007270D	NA	tolerated(1)	benign(0.003)	2/21	NA	hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF45	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	NA	NA	107	0	0	107	123	9	0.068182	132
rs770279386	2:97200343	A	ENSG00000135976	ENST00000420699	Transcript	missense_variant	3009	2765	922	R/Q	cGg/cAg	rs770279386,COSM6159277,COSM3799296	MODERATE	NA	1	NA	SNV	ANKRD36	HGNC	HGNC:24079	protein_coding	YES	5	P1	CCDS54379.1	ENSP00000391950	A6QL64	NA	UPI0001B23BB4	NA	tolerated_low_confidence(1)	possibly_damaging(0.78)	45/76	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	8.265e-06	0	0	0	5.857e-05	0	9.036e-06	0	0	5.857e-05	gnomAD_EAS	NA	0,1,1	0,1,1	NA	NA	NA	NA	NA	900	0	0	900	703	161	0.186343	864
.	2:127628482	T	ENSG00000169994	ENST00000428314	Transcript	missense_variant	4546	4493	1498	G/V	gGc/gTc	COSM441094,COSM441093	MODERATE	NA	1	NA	SNV	MYO7B	HGNC	HGNC:7607	protein_coding	YES	5	P1	CCDS46405.1	ENSP00000415090	Q6PIF6	NA	UPI00006C04F0	NA	deleterious(0)	probably_damaging(0.985)	33/47	NA	PROSITE_profiles:PS50057	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	25	0	0	25	33	9	0.214286	42
.	18:24438038	G	ENSG00000154059	ENST00000284202	Transcript	missense_variant,splice_region_variant	506	365	122	P/R	cCa/cGa	NA	MODERATE	NA	1	NA	SNV	IMPACT	HGNC	HGNC:20387	protein_coding	YES	1	P1	CCDS11886.1	ENSP00000284202	Q9P2X3	NA	UPI000007006B	NA	deleterious(0.03)	benign(0.074)	5/11	NA	hmmpanther:PTHR16301,hmmpanther:PTHR16301:SF6	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	NA	NA	80	0	0	80	153	11	0.067073	164
.	10:3139023	A	ENSG00000067057	ENST00000381125	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	COSM4816119,COSM4816118,COSM4816117,COSM427488	MODIFIER	2221	1	NA	SNV	PFKP	HGNC	HGNC:8878	protein_coding	YES	1	P1	CCDS7059.1	ENSP00000370517	Q01813	NA	UPI00000012D2	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	NA	1,1,1,1	1,1,1,1	NA	NA	NA	NA	NA	142	0	0	142	48	80	0.625	128
.	4:6863440	T	ENSG00000170871	ENST00000307659	Transcript	missense_variant	3513	3058	1020	D/Y	Gac/Tac	COSM448042	MODERATE	NA	1	NA	SNV	KIAA0232	HGNC	HGNC:28992	protein_coding	YES	1	P1	CCDS43209.1	ENSP00000303928	Q92628	NA	UPI000013EC3F	NA	deleterious(0)	probably_damaging(0.983)	7/10	NA	hmmpanther:PTHR17611,Pfam_domain:PF15376	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	106	0	0	106	64	23	0.264368	87
rs760569641	2:189034213	A	ENSG00000204262	ENST00000374866	Transcript	missense_variant	4632	4357	1453	R/W	Cgg/Tgg	rs760569641,COSM441983	MODERATE	NA	-1	NA	SNV	COL5A2	HGNC	HGNC:2210	protein_coding	YES	1	P1	CCDS33350.1	ENSP00000364000	P05997	NA	UPI00006C511C	1	deleterious(0)	probably_damaging(0.924)	54/54	NA	PROSITE_profiles:PS51461,hmmpanther:PTHR24023:SF539,hmmpanther:PTHR24023,Pfam_domain:PF01410,SMART_domains:SM00038,blastprodom:PD002078	NA	NA	NA	NA	NA	NA	NA	NA	1.629e-05	0	0	0	0	4.489e-05	1.798e-05	0	3.249e-05	4.489e-05	gnomAD_FIN	NA	0,1	0,1	NA	NA	NA	NA	NA	135	0	0	135	85	21	0.198113	106
.	6:83864326	C	ENSG00000065615	ENST00000369681	Transcript	missense_variant,splice_region_variant	367	227	76	R/T	aGa/aCa	COSM5198857,COSM451855	MODERATE	NA	1	NA	SNV	CYB5R4	HGNC	HGNC:20147	protein_coding	YES	1	P1	CCDS5000.2	ENSP00000358695	Q7L1T6	NA	UPI000056D3CE	NA	deleterious(0.02)	probably_damaging(0.916)	2/16	NA	Gene3D:3.10.120.10,PDB-ENSP_mappings:3lf5.A,PDB-ENSP_mappings:3lf5.B,Pfam_domain:PF00173,PROSITE_profiles:PS50255,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF122,SMART_domains:SM01117,Superfamily_domains:SSF55856	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	105	0	0	105	118	54	0.313953	172
.	6:85492039	G	ENSG00000135318	ENST00000257770	Transcript	missense_variant	1472	1423	475	L/V	Ctt/Gtt	COSM6215956,COSM451868	MODERATE	NA	1	NA	SNV	NT5E	HGNC	HGNC:8021	protein_coding	YES	1	P1	CCDS5002.1	ENSP00000257770	P21589	NA	UPI0000124F48	1	tolerated(0.14)	benign(0.065)	8/9	NA	Gene3D:3.90.780.10,Pfam_domain:PF02872,hmmpanther:PTHR11575,hmmpanther:PTHR11575:SF25,Superfamily_domains:SSF55816	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	179	0	0	179	115	40	0.258065	155
.	6:114057513	A	ENSG00000249853	ENST00000312719	Transcript	missense_variant	1974	785	262	P/L	cCt/cTt	COSM6104836,COSM450365	MODERATE	NA	-1	NA	SNV	HS3ST5	HGNC	HGNC:19419	protein_coding	YES	2	P1	CCDS34517.1	ENSP00000427888	Q8IZT8	NA	UPI00000740A8	NA	deleterious(0)	probably_damaging(1)	5/5	NA	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF46,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540,PDB-ENSP_mappings:3bd9.A	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	256	0	0	256	176	80	0.3125	256
.	19:6731892	T	ENSG00000125734	ENST00000264080	Transcript	splice_region_variant,synonymous_variant	1326	1299	433	K	aaG/aaA	COSM440598	LOW	NA	-1	NA	SNV	GPR108	HGNC	HGNC:17829	protein_coding	YES	1	P2	CCDS42479.1	ENSP00000264080	Q9NPR9	NA	UPI00001D8222	NA	NA	NA	14/18	NA	Pfam_domain:PF06814,hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF11	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	23	0	0	23	25	7	0.21875	32
.	19:8946399	C	ENSG00000181143	ENST00000397910	Transcript	missense_variant	30575	30371	10124	S/W	tCg/tGg	COSM440741,COSM440740	MODERATE	NA	-1	NA	SNV	MUC16	HGNC	HGNC:15582	protein_coding	YES	5	P1	CCDS54212.1	ENSP00000381008	Q8WXI7	NA	UPI000065CA24	NA	NA	benign(0.141)	3/84	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	126	0	0	126	58	31	0.348315	89
.	19:8953370	A	ENSG00000181143	ENST00000397910	Transcript	synonymous_variant	23604	23400	7800	T	acC/acT	COSM440776,COSM440775,COSM440774	LOW	NA	-1	NA	SNV	MUC16	HGNC	HGNC:15582	protein_coding	YES	5	P1	CCDS54212.1	ENSP00000381008	Q8WXI7	NA	UPI000065CA24	NA	NA	NA	3/84	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1	1,1,1	NA	NA	NA	NA	NA	283	0	0	283	139	50	0.26455	189
rs372845091	19:11102764	T	ENSG00000130164	ENST00000558518	Transcript	synonymous_variant	478	291	97	N	aaC/aaT	rs372845091,CM107979	LOW	NA	1	NA	SNV	LDLR	HGNC	HGNC:6547	protein_coding	YES	1	P3	CCDS12254.1	ENSP00000454071	P01130	A0A024R7D5	UPI00000015DF	1	NA	NA	3/18	NA	PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF254,hmmpanther:PTHR10529,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	NA	NA	NA	NA	NA	NA	0	0.0001163	5.279e-05	0	0	0	5.798e-05	0	0.0001074	0	0	0.0001163	EA	benign,likely_pathogenic	NA	1,1	20809525,15998910	NA	NA	NA	NA	96	0	0	96	69	13	0.158537	82
.	9:18906877	C	ENSG00000178031	ENST00000380548	Transcript	missense_variant	5486	5147	1716	N/T	aAc/aCc	COSM4659720	MODERATE	NA	1	NA	SNV	ADAMTSL1	HGNC	HGNC:14632	protein_coding	YES	5	P1	CCDS47954.1	ENSP00000369921	Q8N6G6	NA	UPI000004FD83	NA	tolerated(1)	benign(0.068)	28/29	NA	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF157,SMART_domains:SM00209,Superfamily_domains:SSF82895	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	39	0	0	39	30	5	0.142857	35
.	14:105771137	C	ENSG00000211897	ENST00000641136	Transcript	missense_variant	269	270	90	S/R	agC/agG	NA	MODERATE	NA	-1	cds_start_NF	SNV	IGHG3	HGNC	HGNC:5527	IG_C_gene	YES	NA	P5	NA	ENSP00000492969	NA	NA	UPI0000F30355	NA	deleterious(0)	probably_damaging(0.987)	1/9	NA	Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF83,SMART_domains:SM00407,Superfamily_domains:SSF48726	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	NA	NA	321	0	0	321	255	34	0.117647	289
.	11:6456866	T	ENSG00000110171	ENST00000525074	Transcript	missense_variant	1255	860	287	P/Q	cCg/cAg	NA	MODERATE	NA	-1	NA	SNV	TRIM3	HGNC	HGNC:10064	protein_coding	YES	2	P1	CCDS7764.1	ENSP00000433102	O75382	NA	UPI000013C8BA	NA	tolerated(0.3)	benign(0.283)	6/12	NA	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF1	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	NA	NA	11	0	0	11	20	3	0.130435	23
.	11:9992510	G	ENSG00000133812	ENST00000256190	Transcript	missense_variant	1339	1201	401	N/H	Aat/Cat	COSM428258	MODERATE	NA	-1	NA	SNV	SBF2	HGNC	HGNC:2135	protein_coding	YES	1	P1	CCDS31427.1	ENSP00000256190	Q86WG5	NA	UPI00000622D5	1	deleterious(0.04)	probably_damaging(0.942)	12/40	NA	PROSITE_profiles:PS50947,hmmpanther:PTHR10807:SF4,hmmpanther:PTHR10807,SMART_domains:SM00801	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	126	0	0	126	95	50	0.344828	145
.	6:151350304	A	ENSG00000131016	ENST00000402676	Transcript	missense_variant	2153	1913	638	V/D	gTc/gAc	NA	MODERATE	NA	1	NA	SNV	AKAP12	HGNC	HGNC:370	protein_coding	YES	5	A2	CCDS5229.1	ENSP00000384537	Q02952	NA	UPI000013CDC7	NA	deleterious(0)	possibly_damaging(0.641)	4/5	NA	hmmpanther:PTHR23209	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	NA	NA	73	0	0	73	185	13	0.065657	198
.	1:2174747	A	ENSG00000067606	ENST00000378567	Transcript	splice_region_variant,intron_variant	NA	NA	NA	NA	NA	NA	LOW	NA	1	NA	SNV	PRKCZ	HGNC	HGNC:9412	protein_coding	YES	1	P1	CCDS37.1	ENSP00000367830	Q05513	NA	UPI0000169EB7	NA	NA	NA	NA	14/17	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	NA	NA	NA	108	0	0	108	143	6	0.040268	149
.	1:9262107	C	ENSG00000049239	ENST00000602477	Transcript	missense_variant	979	827	276	Q/P	cAg/cCg	COSM426840	MODERATE	NA	1	NA	SNV	H6PD	HGNC	HGNC:4795	protein_coding	YES	1	A2	CCDS72697.1	ENSP00000473348	NA	R4GMU1	UPI0000D61E40	1	deleterious(0)	probably_damaging(0.97)	4/5	NA	hmmpanther:PTHR23429,hmmpanther:PTHR23429:SF7,Pfam_domain:PF02781,Gene3D:3.30.360.10,Superfamily_domains:SSF55347,Prints_domain:PR00079	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	54	0	0	54	9	19	0.678571	28
.	1:12861292	C	ENSG00000120952	ENST00000240189	Transcript	missense_variant	1025	938	313	L/P	cTc/cCc	NA	MODERATE	NA	1	NA	SNV	PRAMEF2	HGNC	HGNC:28841	protein_coding	YES	1	P1	CCDS149.1	ENSP00000240189	O60811	NA	UPI0000139EF9	NA	deleterious(0)	probably_damaging(0.999)	4/4	NA	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF20,PIRSF_domain:PIRSF038286,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	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	NA	NA	150	0	0	150	118	33	0.218543	151
rs370475627	1:33491033	T	ENSG00000121903	ENST00000361328	Transcript	missense_variant	928	775	259	V/F	Gtt/Ttt	rs370475627	MODERATE	NA	1	NA	SNV	ZSCAN20	HGNC	HGNC:13093	protein_coding	YES	2	P1	CCDS41300.1	ENSP00000355053	P17040	NA	UPI0000D61EC5	NA	tolerated(0.12)	benign(0.239)	6/8	NA	NA	NA	NA	NA	NA	NA	NA	0.000542	0	0.0001035	0.001135	0.0001339	0	0	0	1.883e-05	0.0002001	0	0.001135	gnomAD_AFR	NA	NA	NA	NA	NA	NA	NA	NA	151	0	0	151	77	26	0.252427	103
.	1:40481790	A	ENSG00000187815	ENST00000372706	Transcript	missense_variant	1161	155	52	V/E	gTa/gAa	COSM426267	MODERATE	NA	1	NA	SNV	ZFP69	HGNC	HGNC:24708	protein_coding	YES	1	P1	CCDS30686.1	ENSP00000361791	Q49AA0	NA	UPI0000160858	NA	tolerated(0.07)	benign(0)	3/6	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	100	0	0	100	45	41	0.476744	86
.	7:82953286	A	ENSG00000186472	ENST00000333891	Transcript	missense_variant	8005	7667	2556	S/F	tCc/tTc	COSM4816124,COSM453463,COSM229057,COSM229056	MODERATE	NA	-1	NA	SNV	PCLO	HGNC	HGNC:13406	protein_coding	YES	2	P1	CCDS47630.1	ENSP00000334319	Q9Y6V0	NA	UPI0001573469	1	deleterious(0)	probably_damaging(0.999)	5/25	NA	Low_complexity_(Seg):seg	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1,1	1,1,1,1	NA	NA	NA	NA	NA	119	0	0	119	54	50	0.480769	104
rs746139832	6:45545263	T	ENSG00000124813	ENST00000371438	Transcript	synonymous_variant	1426	1068	356	L	ctC/ctT	rs746139832,COSM451570,COSM451569	LOW	NA	1	NA	SNV	RUNX2	HGNC	HGNC:10472	protein_coding	YES	5	P4	CCDS43467.2	ENSP00000360493	Q13950	NA	UPI000013532F	1	NA	NA	7/8	NA	hmmpanther:PTHR11950:SF7,hmmpanther:PTHR11950,PIRSF_domain:PIRSF009374	NA	NA	NA	NA	NA	NA	NA	NA	6.911e-06	0	0	0	0	0	0	0	4.385e-05	4.385e-05	gnomAD_SAS	NA	0,1,1	0,1,1	NA	NA	NA	NA	NA	74	0	0	74	38	23	0.377049	61
.	6:47987197	C	ENSG00000244694	ENST00000339488	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	PTCHD4	HGNC	HGNC:21345	protein_coding	YES	2	P1	CCDS34473.2	ENSP00000341914	Q6ZW05	NA	UPI000179A8D3	NA	NA	NA	NA	2/2	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	NA	NA	NA	50	0	0	50	35	12	0.255319	47
.	6:56180102	G	ENSG00000124749	ENST00000244728	Transcript	missense_variant	514	116	39	V/A	gTt/gCt	NA	MODERATE	NA	-1	NA	SNV	COL21A1	HGNC	HGNC:17025	protein_coding	YES	1	P3	CCDS55025.1	ENSP00000244728	Q96P44	A0A158RFW1	UPI0000071DFE	NA	deleterious(0.05)	probably_damaging(0.994)	3/30	NA	PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453	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	NA	NA	56	0	0	56	75	8	0.096386	83
.	4:121932394	A	ENSG00000138741	ENST00000379645	Transcript	synonymous_variant	938	864	288	I	atC/atT	COSM4816116,COSM447307	LOW	NA	-1	NA	SNV	TRPC3	HGNC	HGNC:12335	protein_coding	YES	1	A2	CCDS47130.1	ENSP00000368966	Q13507	NA	UPI00004C6F61	1	NA	NA	2/12	NA	Pfam_domain:PF08344,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF8,TIGRFAM_domain:TIGR00870	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	38	0	0	38	10	26	0.722222	36
.	15:44337817	G	ENSG00000166734	ENST00000299957	Transcript	missense_variant	930	631	211	Q/E	Caa/Gaa	COSM433944	MODERATE	NA	1	NA	SNV	CASC4	HGNC	HGNC:24892	protein_coding	YES	1	P4	CCDS10108.1	ENSP00000299957	Q6P4E1	NA	UPI0000140255	NA	tolerated(0.79)	benign(0.009)	5/10	NA	hmmpanther:PTHR15896:SF7,hmmpanther:PTHR15896	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	122	0	0	122	128	82	0.390476	210
.	13:46127712	A	ENSG00000136167	ENST00000398576	Transcript	missense_variant	2152	1763	588	S/F	tCt/tTt	COSM947723,COSM432439,COSM1300217	MODERATE	NA	-1	NA	SNV	LCP1	HGNC	HGNC:6528	protein_coding	YES	5	P1	CCDS9403.1	ENSP00000381581	P13796	A0A024RDT4	UPI0000070B5C	NA	deleterious(0)	probably_damaging(1)	19/19	NA	PROSITE_profiles:PS50021,hmmpanther:PTHR19961:SF35,hmmpanther:PTHR19961,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1	1,1,1	NA	NA	NA	NA	NA	134	0	0	134	95	44	0.316547	139
rs776131090	9:104124962	A	ENSG00000136824	ENST00000286398	Transcript	missense_variant	2612	2308	770	E/K	Gaa/Aaa	rs776131090,COSM455078,COSM455079,COSM5198871	MODERATE	NA	1	NA	SNV	SMC2	HGNC	HGNC:14011	protein_coding	YES	1	P1	CCDS35086.1	ENSP00000286398	O95347	A0A024R158	UPI000013DE44	NA	tolerated(0.36)	benign(0.101)	18/25	NA	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF9,PIRSF_domain:PIRSF005719	NA	NA	NA	NA	NA	NA	NA	NA	8.637e-06	0	0	0	0	4.516e-05	9.291e-06	0	0	4.516e-05	gnomAD_FIN	NA	0,1,1,1	0,1,1,1	NA	NA	NA	NA	NA	75	0	0	75	78	56	0.41791	134
.	8:53954257	C	ENSG00000147509	ENST00000297313	Transcript	missense_variant	1017	925	309	E/Q	Gag/Cag	COSM454672,COSM5198865	MODERATE	NA	1	NA	SNV	RGS20	HGNC	HGNC:14600	protein_coding	YES	1	P4	CCDS6155.1	ENSP00000297313	O76081	NA	UPI000013383C	NA	deleterious(0.02)	possibly_damaging(0.552)	5/6	NA	Gene3D:1.10.167.10,Pfam_domain:PF00615,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF175,SMART_domains:SM00315,Superfamily_domains:SSF48097,Low_complexity_(Seg):seg	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	39	0	0	39	116	17	0.12782	133
.	8:63187322	G	ENSG00000185728	ENST00000621413	Transcript	missense_variant	1674	1320	440	I/M	atC/atG	COSM5198866	MODERATE	NA	1	NA	SNV	YTHDF3	HGNC	HGNC:26465	protein_coding	YES	5	NA	CCDS75748.1	ENSP00000478490	NA	A0A087WY31	UPI0002D13FA3	NA	deleterious(0)	benign(0.354)	5/6	NA	PROSITE_profiles:PS50882,hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF9,Pfam_domain:PF04146	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	196	0	0	196	230	35	0.132075	265
.	8:73981434	G	ENSG00000175606	ENST00000312184	Transcript	missense_variant	669	596	199	D/G	gAt/gGt	COSM454837	MODERATE	NA	1	NA	SNV	TMEM70	HGNC	HGNC:26050	protein_coding	YES	1	P1	CCDS6215.1	ENSP00000312599	Q9BUB7	NA	UPI00001BBFAB	1	deleterious(0)	probably_damaging(0.989)	3/3	NA	hmmpanther:PTHR13281,Pfam_domain:PF06979	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	141	0	0	141	202	23	0.102222	225
.	12:25101280	T	ENSG00000118308	ENST00000354454	Transcript	missense_variant	1673	844	282	V/F	Gtt/Ttt	COSM430918	MODERATE	NA	1	NA	SNV	LRMP	HGNC	HGNC:6690	protein_coding	YES	1	NA	CCDS8701.1	ENSP00000346442	Q12912	NA	UPI000034ECC4	NA	deleterious(0)	probably_damaging(0.917)	15/21	NA	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05781,hmmpanther:PTHR15352	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	104	0	0	104	144	31	0.177143	175
.	2:206791792	C	ENSG00000118246	ENST00000236980	Transcript	missense_variant	2471	2123	708	S/T	aGc/aCc	COSM442200	MODERATE	NA	1	NA	SNV	FASTKD2	HGNC	HGNC:29160	protein_coding	YES	1	P1	CCDS2371.1	ENSP00000236980	Q9NYY8	A0A024R419	UPI0000073E9F	1	deleterious_low_confidence(0.01)	benign(0.165)	12/12	NA	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF1	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	165	0	0	165	142	38	0.211111	180
.	10:33213409	T	ENSG00000099250	ENST00000265371	Transcript	missense_variant	2117	1591	531	D/N	Gat/Aat	COSM4816123,COSM4816122,COSM4816121,COSM427514	MODERATE	NA	-1	NA	SNV	NRP1	HGNC	HGNC:8004	protein_coding	YES	5	P3	CCDS7177.1	ENSP00000265371	O14786	NA	UPI000013D60A	NA	deleterious(0.03)	probably_damaging(0.947)	10/18	NA	PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF654,hmmpanther:PTHR10127,Pfam_domain:PF00754,PIRSF_domain:PIRSF036960,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1,1	1,1,1,1	NA	NA	NA	NA	NA	107	0	0	107	69	27	0.28125	96
.	10:33256319	A	ENSG00000099250	ENST00000265371	Transcript	stop_gained	1337	811	271	E/*	Gaa/Taa	COSM4816126,COSM4816125,COSM427517	HIGH	NA	-1	NA	SNV	NRP1	HGNC	HGNC:8004	protein_coding	YES	5	P3	CCDS7177.1	ENSP00000265371	O14786	NA	UPI000013D60A	NA	NA	NA	6/18	NA	hmmpanther:PTHR10127:SF654,hmmpanther:PTHR10127,PIRSF_domain:PIRSF036960	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1	1,1,1	NA	NA	NA	NA	NA	92	0	0	92	82	35	0.299145	117
.	2:197409953	A	ENSG00000115524	ENST00000335508	Transcript	stop_gained	813	721	241	G/*	Gga/Tga	COSM442069	HIGH	NA	-1	NA	SNV	SF3B1	HGNC	HGNC:10768	protein_coding	YES	1	P1	CCDS33356.1	ENSP00000335321	O75533	NA	UPI000013D493	1	NA	NA	7/25	NA	hmmpanther:PTHR12097	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	216	0	0	216	200	24	0.107143	224
.	19:38918789	T	ENSG00000269547	ENST00000599996	Transcript	missense_variant	992	994	332	D/N	Gac/Aac	COSM439450,COSM1134082	MODERATE	NA	-1	cds_start_NF	SNV	AC011455.2	Clone_based_ensembl_gene	NA	protein_coding	YES	2	P1	NA	ENSP00000472465	NA	M0R2C6	UPI0002A47101	NA	deleterious(0)	probably_damaging(1)	12/20	NA	PROSITE_profiles:PS50862,hmmpanther:PTHR11778:SF10,hmmpanther:PTHR11778,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00414,Superfamily_domains:SSF55681	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	41	0	0	41	17	27	0.613636	44
.	17:50192651	T	ENSG00000108821	ENST00000225964	Transcript	missense_variant	2037	1918	640	P/T	Ccc/Acc	COSM436827	MODERATE	NA	-1	NA	SNV	COL1A1	HGNC	HGNC:2197	protein_coding	YES	1	P1	CCDS11561.1	ENSP00000225964	P02452	NA	UPI0000DACAC3	1	tolerated(0.26)	benign(0.011)	28/51	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF569,hmmpanther:PTHR24023	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	130	0	0	130	92	63	0.406452	155
.	17:73235499	A	ENSG00000141219	ENST00000359042	Transcript	missense_variant	226	17	6	P/H	cCc/cAc	NA	MODERATE	NA	1	NA	SNV	C17orf80	HGNC	HGNC:29601	protein_coding	YES	5	P3	CCDS11694.1	ENSP00000351937	Q9BSJ5	NA	UPI000014128C	NA	deleterious(0)	benign(0.38)	3/6	NA	hmmpanther:PTHR16270	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	NA	NA	44	0	0	44	38	3	0.073171	41
.	17:73414731	A	ENSG00000069188	ENST00000392650	Transcript	synonymous_variant	2398	2397	799	H	caC/caT	rs1053433876,COSM437276,COSM3970276	LOW	NA	-1	NA	SNV	SDK2	HGNC	HGNC:19308	protein_coding	YES	5	P1	CCDS45769.1	ENSP00000376421	Q58EX2	NA	UPI0000E5A088	NA	NA	NA	18/45	NA	Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,SMART_domains:SM00060,Superfamily_domains:SSF49265	NA	NA	NA	NA	NA	NA	NA	NA	8.126e-06	0	2.978e-05	0	0	0	0	0	3.249e-05	3.249e-05	gnomAD_SAS	NA	0,1,1	0,1,1	NA	NA	NA	NA	NA	80	0	0	80	88	20	0.185185	108
.	11:117392507	G	ENSG00000110274	ENST00000278935	Transcript	missense_variant	2520	2373	791	S/R	agC/agG	COSM428477	MODERATE	NA	1	NA	SNV	CEP164	HGNC	HGNC:29182	protein_coding	YES	1	P1	CCDS31683.1	ENSP00000278935	Q9UPV0	NA	UPI00001FA422	1	deleterious(0)	possibly_damaging(0.839)	19/33	NA	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF27	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	107	0	0	107	72	43	0.373913	115
.	11:120481463	T	ENSG00000196914	ENST00000397843	Transcript	stop_gained	4607	4441	1481	G/*	Gga/Tga	COSM428556	HIGH	NA	1	NA	SNV	ARHGEF12	HGNC	HGNC:14193	protein_coding	YES	1	P1	CCDS41727.1	ENSP00000380942	Q9NZN5	NA	UPI00000708ED	1	NA	NA	39/41	NA	hmmpanther:PTHR12673:SF126,hmmpanther:PTHR12673	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	116	0	0	116	90	48	0.347826	138
.	1:160358178	T	ENSG00000162736	ENST00000294785	Transcript	synonymous_variant	2162	2037	679	I	atC/atT	COSM5198840,COSM5043952,COSM5043951,COSM424325	LOW	NA	1	NA	SNV	NCSTN	HGNC	HGNC:17091	protein_coding	YES	1	P1	CCDS1203.1	ENSP00000294785	Q92542	NA	UPI0000042050	1	NA	NA	17/17	NA	hmmpanther:PTHR21092,Transmembrane_helices:TMhelix	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1,1	1,1,1,1	NA	NA	NA	NA	NA	153	0	0	153	106	21	0.165354	127
.	1:163073610	C	ENSG00000117152	ENST00000421743	Transcript	missense_variant	817	657	219	Q/H	caG/caC	COSM424433,COSM424432	MODERATE	NA	1	NA	SNV	RGS4	HGNC	HGNC:10000	protein_coding	YES	1	NA	CCDS44270.1	ENSP00000397181	P49798	NA	UPI0000E1EDBA	NA	deleterious(0)	possibly_damaging(0.835)	5/6	NA	Gene3D:1.10.167.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF184,SMART_domains:SM00315,Superfamily_domains:SSF48097	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	145	0	0	145	124	34	0.21519	158
.	1:190099023	T	ENSG00000162670	ENST00000367462	Transcript	synonymous_variant	1781	1296	432	Q	caG/caA	COSM424859	LOW	NA	-1	NA	SNV	BRINP3	HGNC	HGNC:22393	protein_coding	YES	1	P1	CCDS1373.1	ENSP00000356432	Q76B58	NA	UPI00001C1D9A	NA	NA	NA	8/8	NA	hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2,Superfamily_domains:SSF57184	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	29	0	0	29	37	5	0.119048	42
.	8:144336094	A	ENSG00000261678	ENST00000569446	Transcript	missense_variant	188	76	26	R/C	Cgc/Tgc	COSM454222	MODERATE	NA	-1	NA	SNV	SCRT1	HGNC	HGNC:15950	protein_coding	YES	1	P1	CCDS6421.1	ENSP00000455711	Q9BWW7	NA	UPI0000457711	NA	deleterious(0.03)	probably_damaging(0.998)	1/2	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	24	0	0	24	41	5	0.108696	46
.	8:144453231	T	ENSG00000187954	ENST00000530374	Transcript	missense_variant	809	602	201	C/Y	tGc/tAc	COSM454234	MODERATE	NA	-1	NA	SNV	CYHR1	HGNC	HGNC:17806	protein_coding	YES	3	A2	CCDS83335.1	ENSP00000433769	NA	E9PJD7	UPI0000416E28	NA	deleterious(0)	probably_damaging(1)	2/4	NA	PROSITE_profiles:PS50145,hmmpanther:PTHR23059,Superfamily_domains:SSF49599	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	35	0	0	35	77	54	0.412214	131
.	6:10926362	T	ENSG00000153157	ENST00000283141	Transcript	synonymous_variant	1538	1242	414	I	atC/atT	COSM450295	LOW	NA	1	NA	SNV	SYCP2L	HGNC	HGNC:21537	protein_coding	YES	1	P1	CCDS43423.1	ENSP00000283141	Q5T4T6	NA	UPI000022CA18	NA	NA	NA	16/30	NA	hmmpanther:PTHR15607:SF14,hmmpanther:PTHR15607	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	139	0	0	139	147	39	0.209677	186
.	2:69415234	G	ENSG00000169599	ENST00000410022	Transcript	synonymous_variant	641	435	145	F	ttT/ttC	COSM443130	LOW	NA	-1	NA	SNV	NFU1	HGNC	HGNC:16287	protein_coding	YES	1	P3	CCDS33217.1	ENSP00000387219	Q9UMS0	NA	UPI00001B3DAF	1	NA	NA	5/8	NA	Superfamily_domains:0042426,Gene3D:2ffmA00,Pfam_domain:PF08712,hmmpanther:PTHR11178,hmmpanther:PTHR11178:SF1,SMART_domains:SM00932	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	171	0	0	171	203	35	0.147059	238
rs752008980	2:74675371	G	ENSG00000135622	ENST00000357877	Transcript	synonymous_variant	1508	1359	453	L	ctC/ctG	rs752008980,COSM443245	LOW	NA	1	NA	SNV	SEMA4F	HGNC	HGNC:10734	protein_coding	YES	1	P1	CCDS1955.1	ENSP00000350547	O95754	NA	UPI0000001BF5	NA	NA	NA	10/14	NA	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	NA	NA	NA	NA	NA	NA	NA	NA	4.089e-06	0	0	0	0	0	9.038e-06	0	0	9.038e-06	gnomAD_NFE	NA	0,1	0,1	NA	NA	NA	NA	NA	82	0	0	82	78	31	0.284404	109
.	4:73258410	T	ENSG00000132466	ENST00000358602	Transcript	missense_variant	376	259	87	E/K	Gaa/Aaa	COSM448117	MODERATE	NA	-1	NA	SNV	ANKRD17	HGNC	HGNC:23575	protein_coding	YES	5	P4	CCDS34004.1	ENSP00000351416	O75179	NA	UPI00002263B0	NA	deleterious_low_confidence(0)	benign(0.001)	1/34	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	80	0	0	80	26	24	0.48	50
.	10:93663067	T	ENSG00000095464	ENST00000371447	Transcript	missense_variant	2545	2407	803	S/C	Agt/Tgt	COSM428158	MODERATE	NA	1	NA	SNV	PDE6C	HGNC	HGNC:8787	protein_coding	YES	1	P1	CCDS7429.1	ENSP00000360502	P51160	NA	UPI000013C84A	1	deleterious(0)	possibly_damaging(0.621)	21/22	NA	Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF23,Superfamily_domains:SSF109604	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	154	0	0	154	245	51	0.172297	296
.	10:110226200	T	ENSG00000119950	ENST00000332674	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	MXI1	HGNC	HGNC:7534	protein_coding	YES	1	NA	CCDS7563.1	ENSP00000331152	P50539	NA	UPI0000376B16	1	NA	NA	NA	1/5	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	NA	NA	NA	16	0	0	16	9	4	0.307692	13
.	12:57106575	A	ENSG00000166888	ENST00000300134	Transcript	synonymous_variant	810	484	162	L	Ctg/Ttg	COSM431558	LOW	NA	-1	NA	SNV	STAT6	HGNC	HGNC:11368	protein_coding	YES	1	P3	CCDS8931.1	ENSP00000300134	P42226	NA	UPI00000473FE	1	NA	NA	6/22	NA	hmmpanther:PTHR11801:SF48,hmmpanther:PTHR11801,Gene3D:1bg1A01,Superfamily_domains:SSF47655	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	273	0	0	273	120	59	0.329609	179
rs757777816	12:57765419	T	ENSG00000111012	ENST00000228606	Transcript	missense_variant	677	467	156	G/E	gGa/gAa	rs757777816,COSM5198842	MODERATE	NA	-1	NA	SNV	CYP27B1	HGNC	HGNC:2606	protein_coding	YES	1	P1	CCDS8954.1	ENSP00000228606	O15528	NA	UPI000000D77F	1	tolerated(1)	benign(0.007)	3/9	NA	hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF3,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	NA	NA	NA	NA	NA	NA	NA	NA	2.49e-05	0	0	0	0.000234	0	1.843e-05	0	0	0.000234	gnomAD_EAS	NA	0,1	0,1	NA	NA	NA	NA	NA	25	0	0	25	26	7	0.212121	33
.	12:58877485	C	ENSG00000139263	ENST00000320743	Transcript	missense_variant	2738	2451	817	C/W	tgC/tgG	COSM4816129,COSM4784708,COSM1363468	MODERATE	NA	-1	NA	SNV	LRIG3	HGNC	HGNC:30991	protein_coding	YES	1	P3	CCDS8960.1	ENSP00000326759	Q6UXM1	NA	UPI0000035BB5	1	deleterious(0)	probably_damaging(0.996)	15/19	NA	hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF242,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1	1,1,1	NA	NA	NA	NA	NA	111	0	0	111	110	56	0.337349	166
.	15:89715050	T	ENSG00000140527	ENST00000268130	Transcript	synonymous_variant	812	711	237	P	ccC/ccT	COSM434523	LOW	NA	1	NA	SNV	WDR93	HGNC	HGNC:26924	protein_coding	YES	1	P3	CCDS32326.1	ENSP00000268130	Q6P2C0	NA	UPI00001D77A7	NA	NA	NA	6/17	NA	hmmpanther:PTHR12219,hmmpanther:PTHR12219:SF17	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	177	0	0	177	203	31	0.132479	234
.	20:35123925	T	ENSG00000088298	ENST00000374492	Transcript	missense_variant	1185	1079	360	T/K	aCa/aAa	COSM4816128,COSM443707	MODERATE	NA	-1	NA	SNV	EDEM2	HGNC	HGNC:15877	protein_coding	YES	1	P1	CCDS13247.1	ENSP00000363616	Q9BV94	NA	UPI00001285D9	NA	deleterious(0.03)	possibly_damaging(0.725)	9/11	NA	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF41,Gene3D:1.50.10.50,Pfam_domain:PF01532,Superfamily_domains:SSF48225	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	101	0	0	101	138	35	0.202312	173
.	12:6937076	T	ENSG00000111676	ENST00000356654	Transcript	synonymous_variant	2046	1809	603	P	ccG/ccT	NA	LOW	NA	1	NA	SNV	ATN1	HGNC	HGNC:3033	protein_coding	YES	1	P1	CCDS31734.1	ENSP00000349076	P54259	NA	UPI000006F554	1	NA	NA	5/10	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF9,Pfam_domain:PF03154	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	NA	NA	28	0	0	28	33	3	0.083333	36
.	12:14942666	A	ENSG00000111348	ENST00000228945	Transcript	missense_variant	607	462	154	E/D	gaG/gaT	COSM430823	MODERATE	NA	-1	NA	SNV	ARHGDIB	HGNC	HGNC:679	protein_coding	YES	1	P1	CCDS8671.1	ENSP00000228945	P52566	A0A024RAS5	UPI0000030441	NA	tolerated(0.06)	benign(0.005)	6/6	NA	PDB-ENSP_mappings:1ds6.B,PDB-ENSP_mappings:5h1d.A,hmmpanther:PTHR10980:SF15,hmmpanther:PTHR10980,Gene3D:2.70.50.30,Pfam_domain:PF02115,Superfamily_domains:SSF81296,Prints_domain:PR00492	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	86	0	0	86	49	13	0.209677	62
.	9:87637952	A	ENSG00000196730	ENST00000408954	Transcript	synonymous_variant	629	294	98	G	ggT/ggA	COSM456194,COSM456195,COSM5198870	LOW	NA	1	NA	SNV	DAPK1	HGNC	HGNC:2674	protein_coding	YES	2	P1	CCDS43842.1	ENSP00000386135	P53355	NA	UPI0000210C2F	NA	NA	NA	4/26	NA	Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF699,SMART_domains:SM00220,Superfamily_domains:SSF56112	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1	1,1,1	NA	NA	NA	NA	NA	198	0	0	198	96	30	0.238095	126
.	9:89045790	T	ENSG00000148082	ENST00000375835	Transcript	missense_variant	1464	1157	386	G/E	gGa/gAa	COSM456213	MODERATE	NA	-1	NA	SNV	SHC3	HGNC	HGNC:18181	protein_coding	YES	1	P1	CCDS6681.1	ENSP00000364995	Q92529	NA	UPI0000073E1F	NA	tolerated(0.11)	benign(0.037)	9/12	NA	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF4	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	339	0	0	339	189	79	0.294776	268
.	8:108784314	T	ENSG00000164841	ENST00000297459	Transcript	missense_variant	964	785	262	R/Q	cGa/cAa	COSM277732	MODERATE	NA	-1	NA	SNV	TMEM74	HGNC	HGNC:26409	protein_coding	YES	1	P1	CCDS6310.1	ENSP00000297459	Q96NL1	A0A024R9D4	UPI000006E80B	NA	deleterious(0.04)	probably_damaging(0.983)	2/2	NA	hmmpanther:PTHR16125,hmmpanther:PTHR16125:SF3	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	138	0	0	138	283	43	0.131902	326
.	20:49223316	T	ENSG00000124228	ENST00000622530	Transcript	stop_gained	503	442	148	E/*	Gaa/Taa	COSM443989	HIGH	NA	1	NA	SNV	DDX27	HGNC	HGNC:15837	protein_coding	YES	1	P2	CCDS13416.1	ENSP00000483495	Q96GQ7	NA	UPI0000140DCA	NA	NA	NA	4/21	NA	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF93,Low_complexity_(Seg):seg	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	76	0	0	76	128	69	0.350254	197
rs751486494	3:126177140	T	ENSG00000144908	ENST00000273450	Transcript	intron_variant	NA	NA	NA	NA	NA	rs751486494	MODIFIER	NA	-1	NA	SNV	ALDH1L1	HGNC	HGNC:3978	protein_coding	YES	1	NA	CCDS58851.1	ENSP00000273450	O75891	NA	UPI0000425C57	NA	NA	NA	NA	1/22	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	NA	NA	NA	82	0	0	82	59	37	0.385417	96
.	1:201369864	A	ENSG00000118194	ENST00000236918	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	TNNT2	HGNC	HGNC:11949	protein_coding	YES	5	A2	CCDS73003.1	ENSP00000236918	P45379	NA	UPI0000186843	1	NA	NA	NA	3/15	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	NA	NA	NA	50	0	0	50	164	17	0.093923	181
.	1:203733290	T	ENSG00000058668	ENST00000357681	Transcript	intron_variant	NA	NA	NA	NA	NA	COSM425055	MODIFIER	NA	1	NA	SNV	ATP2B4	HGNC	HGNC:817	protein_coding	YES	1	P3	CCDS1440.1	ENSP00000350310	P23634	A0A024R968	UPI000002A464	NA	NA	NA	NA	20/20	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	206	0	0	206	285	41	0.125767	326
.	5:113003997	A	ENSG00000172795	ENST00000389063	Transcript	missense_variant	1060	862	288	Q/K	Cag/Aag	NA	MODERATE	NA	1	NA	SNV	DCP2	HGNC	HGNC:24452	protein_coding	YES	1	P1	CCDS34210.1	ENSP00000373715	Q8IU60	NA	UPI00000747DA	NA	tolerated_low_confidence(0.21)	possibly_damaging(0.46)	8/11	NA	hmmpanther:PTHR23114,hmmpanther:PTHR23114:SF25	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	NA	NA	131	0	0	131	116	6	0.04918	122
.	2:161854974	G	ENSG00000144290	ENST00000446997	Transcript	missense_variant	514	421	141	L/V	Ttg/Gtg	NA	MODERATE	NA	1	NA	SNV	SLC4A10	HGNC	HGNC:13811	protein_coding	YES	1	A1	CCDS54411.1	ENSP00000393066	Q6U841	NA	UPI00001D4707	NA	tolerated(0.42)	benign(0.251)	5/27	NA	hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Gene3D:1hynR00,TIGRFAM_domain:TIGR00834,Superfamily_domains:SSF55804	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	NA	NA	177	0	0	177	131	7	0.050725	138
.	16:3382953	A	ENSG00000140987	ENST00000396846	Transcript	missense_variant	2301	1993	665	H/Y	Cac/Tac	COSM5198843,COSM435213,COSM435212	MODERATE	NA	-1	NA	SNV	ZSCAN32	HGNC	HGNC:20812	protein_coding	YES	1	P1	CCDS66921.1	ENSP00000380057	Q9NX65	NA	UPI000035DB5C	NA	deleterious(0.03)	benign(0.365)	7/7	NA	PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF221,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1	1,1,1	NA	NA	NA	NA	NA	202	0	0	202	142	65	0.31401	207
rs750648345	16:24571167	G	ENSG00000122257	ENST00000319715	Transcript	missense_variant	4533	4101	1367	S/R	agT/agG	rs750648345	MODERATE	NA	1	NA	SNV	RBBP6	HGNC	HGNC:9889	protein_coding	YES	1	P4	CCDS10621.1	ENSP00000317872	Q7Z6E9	NA	UPI00001A96B8	NA	deleterious_low_confidence(0)	benign(0.021)	18/18	NA	hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF3,Low_complexity_(Seg):seg	NA	NA	NA	NA	NA	NA	NA	NA	8.136e-06	0	0	0	0	0	1.796e-05	0	0	1.796e-05	gnomAD_NFE	NA	NA	NA	NA	NA	NA	NA	NA	32	0	0	32	63	29	0.315217	92
.	12:96334721	C	ENSG00000059758	ENST00000261211	Transcript	missense_variant,splice_region_variant	720	116	39	N/S	aAt/aGt	COSM4816120,COSM432029	MODERATE	NA	-1	NA	SNV	CDK17	HGNC	HGNC:8750	protein_coding	YES	1	P1	CCDS9061.1	ENSP00000261211	Q00537	A0A024RBH0	UPI000006F45A	NA	tolerated_low_confidence(0.53)	benign(0)	2/17	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	326	0	0	326	297	68	0.186301	365
.	12:52306218	G	ENSG00000170442	ENST00000423955	Transcript	synonymous_variant	1363	1185	395	S	tcC/tcG	COSM431332	LOW	NA	1	NA	SNV	KRT86	HGNC	HGNC:6463	protein_coding	YES	2	P1	CCDS41785.1	ENSP00000444533	O43790	NA	UPI000006E57E	1	NA	NA	9/11	NA	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF175,Gene3D:1.20.5.170,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	84	0	0	84	69	19	0.215909	88
.	12:54523829	A	ENSG00000123338	ENST00000293373	Transcript	missense_variant	2108	2029	677	D/N	Gac/Aac	COSM431415	MODERATE	NA	1	NA	SNV	NCKAP1L	HGNC	HGNC:4862	protein_coding	YES	1	P3	CCDS31813.1	ENSP00000293373	P55160	NA	UPI00001C0439	NA	deleterious(0)	probably_damaging(0.999)	20/31	NA	hmmpanther:PTHR12093:SF9,hmmpanther:PTHR12093,Pfam_domain:PF09735	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	139	0	0	139	101	28	0.217054	129
.	9:35101262	T	ENSG00000165283	ENST00000356493	Transcript	synonymous_variant	660	597	199	R	cgG/cgA	COSM455894	LOW	NA	-1	NA	SNV	STOML2	HGNC	HGNC:14559	protein_coding	YES	1	P1	CCDS6577.1	ENSP00000348886	Q9UJZ1	NA	UPI000006E47E	NA	NA	NA	7/10	NA	Superfamily_domains:0050593,Pfam_domain:PF01145,Prints_domain:PR00721,hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF27	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	116	0	0	116	72	26	0.265306	98
.	9:35103041	T	ENSG00000165283	ENST00000356493	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	STOML2	HGNC	HGNC:14559	protein_coding	YES	1	P1	CCDS6577.1	ENSP00000348886	Q9UJZ1	NA	UPI000006E47E	NA	NA	NA	NA	1/9	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	NA	NA	NA	32	0	0	32	22	6	0.214286	28
rs756618654	9:35562548	A	ENSG00000215187	ENST00000399742	Transcript	missense_variant	642	571	191	R/C	Cgc/Tgc	rs756618654	MODERATE	NA	-1	NA	SNV	FAM166B	HGNC	HGNC:34242	protein_coding	YES	1	P1	CCDS56572.1	ENSP00000382646	A8MTA8	NA	UPI0000160C8C	NA	deleterious(0.03)	benign(0.049)	5/6	NA	hmmpanther:PTHR22146,hmmpanther:PTHR22146:SF8	NA	NA	NA	NA	NA	NA	NA	NA	5.001e-05	8.652e-05	3.549e-05	0	0	0	3.415e-05	0	0.0001956	0.0001956	gnomAD_SAS	NA	NA	NA	NA	NA	NA	NA	NA	87	0	0	87	66	30	0.3125	96
.	9:36344834	G	ENSG00000137075	ENST00000259605	Transcript	splice_region_variant,synonymous_variant	1491	1383	461	T	acT/acC	COSM455945,COSM4816127	LOW	NA	-1	NA	SNV	RNF38	HGNC	HGNC:18052	protein_coding	YES	1	NA	CCDS6603.1	ENSP00000259605	Q9H0F5	NA	UPI00001D69FF	NA	NA	NA	10/12	NA	hmmpanther:PTHR14155,hmmpanther:PTHR14155:SF81,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	212	0	0	212	151	49	0.245	200
