#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
.	14:106410525	T	ENSG00000211958	ENST00000390618	Transcript	missense_variant	394	316	106	E/K	Gag/Aag	NA	MODERATE	NA	-1	cds_end_NF	SNV	IGHV3-38	HGNC	HGNC:5601	IG_V_gene	YES	NA	P1	NA	ENSP00000375027	NA	A0A0C4DH36	UPI0000F30366	NA	deleterious_low_confidence(0.02)	benign(0.286)	2/2	NA	Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF97,SMART_domains:SM00406,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	183	0	0	183	123	27	0.18	150
.	13:27567685	A	ENSG00000139517	ENST00000316334	Transcript	synonymous_variant	940	810	270	V	gtC/gtT	NA	LOW	NA	-1	NA	SNV	LNX2	HGNC	HGNC:20421	protein_coding	YES	1	P1	CCDS9323.1	ENSP00000325929	Q8N448	NA	UPI000012E7A7	NA	NA	NA	4/10	NA	Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF33,SMART_domains:SM00228,Superfamily_domains:SSF50156	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	146	0	0	146	188	13	0.064677	201
.	13:45283478	T	ENSG00000188342	ENST00000340473	Transcript	stop_gained	808	667	223	Q/*	Cag/Tag	NA	HIGH	NA	1	NA	SNV	GTF2F2	HGNC	HGNC:4653	protein_coding	YES	1	P1	CCDS9395.1	ENSP00000340823	P13984	A0A024RDU9	UPI0000000C36	NA	NA	NA	8/8	NA	PDB-ENSP_mappings:1bby.A,PDB-ENSP_mappings:2bby.A,PDB-ENSP_mappings:5iy6.T,PDB-ENSP_mappings:5iy7.T,PDB-ENSP_mappings:5iy8.T,PDB-ENSP_mappings:5iy9.T,PDB-ENSP_mappings:5iya.T,PDB-ENSP_mappings:5iyb.T,PDB-ENSP_mappings:5iyc.T,PDB-ENSP_mappings:5iyd.T,hmmpanther:PTHR10445,PIRSF_domain:PIRSF015849,Gene3D:1.10.10.10,Pfam_domain:PF02270,Superfamily_domains:SSF46785	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	118	7	0.056	125
.	13:51374253	C	ENSG00000102786	ENST00000311234	Transcript	missense_variant	2532	2059	687	T/A	Act/Gct	NA	MODERATE	NA	-1	NA	SNV	INTS6	HGNC	HGNC:14879	protein_coding	YES	1	P1	CCDS9428.1	ENSP00000310260	Q9UL03	A0A024RDU0	UPI0000030C84	NA	tolerated(0.53)	benign(0)	15/18	NA	hmmpanther:PTHR12957:SF23,hmmpanther:PTHR12957	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	89	0	0	89	135	14	0.09396	149
.	13:51703656	C	ENSG00000139668	ENST00000298125	Transcript	splice_region_variant,intron_variant	NA	NA	NA	NA	NA	NA	LOW	NA	1	NA	SNV	WDFY2	HGNC	HGNC:20482	protein_coding	YES	1	P1	CCDS9429.1	ENSP00000298125	Q96P53	NA	UPI00000466AC	NA	NA	NA	NA	4/11	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	95	0	0	95	161	7	0.041667	168
.	14:22096589	T	ENSG00000211804	ENST00000621643	Transcript	missense_variant	83	83	28	S/L	tCa/tTa	NA	MODERATE	NA	1	NA	SNV	TRDV1	HGNC	HGNC:12262	protein_coding	YES	NA	P1	NA	ENSP00000484940	NA	A0A087X2F4	UPI0004E4CAA3	NA	deleterious(0.02)	possibly_damaging(0.81)	1/1	NA	hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF126,Gene3D:2.60.40.10,Pfam_domain:PF07686,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	62	0	0	62	96	7	0.067961	103
.	14:22929345	C	ENSG00000100462	ENST00000324366	Transcript	missense_variant	241	17	6	V/G	gTc/gGc	NA	MODERATE	NA	-1	NA	SNV	PRMT5	HGNC	HGNC:10894	protein_coding	YES	1	P1	CCDS9579.1	ENSP00000319169	O14744	NA	UPI000006F09F	NA	deleterious_low_confidence(0.02)	benign(0.018)	1/17	NA	PIRSF_domain:PIRSF015894,hmmpanther:PTHR10738,Low_complexity_(Seg):seg	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	21	0	0	21	45	3	0.0625	48
.	14:22989842	C	ENSG00000100802	ENST00000299088	Transcript	missense_variant	1414	984	328	I/M	atC/atG	NA	MODERATE	NA	-1	NA	SNV	C14orf93	HGNC	HGNC:20162	protein_coding	YES	2	P1	CCDS9583.1	ENSP00000299088	Q9H972	NA	UPI000000CC08	NA	deleterious_low_confidence(0.05)	probably_damaging(0.994)	5/7	NA	hmmpanther:PTHR14375,Pfam_domain:PF15394	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	115	0	0	115	126	7	0.052632	133
.	10:13180509	G	ENSG00000065328	ENST00000484800	Transcript	missense_variant	938	835	279	Q/E	Cag/Gag	NA	MODERATE	NA	1	NA	SNV	MCM10	HGNC	HGNC:18043	protein_coding	YES	1	P4	CCDS7096.1	ENSP00000418268	Q7L590	NA	UPI000013C5E2	NA	deleterious(0)	possibly_damaging(0.467)	7/20	NA	hmmpanther:PTHR13454	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	146	0	0	146	198	9	0.043478	207
.	4:5563088	C	ENSG00000173040	ENST00000344408	Transcript	synonymous_variant	3741	3687	1229	L	ctC/ctG	COSM447953	LOW	NA	-1	NA	SNV	EVC2	HGNC	HGNC:19747	protein_coding	YES	1	P3	CCDS3382.2	ENSP00000342144	Q86UK5	NA	UPI00001910B5	1	NA	NA	22/22	NA	hmmpanther:PTHR16795:SF14,hmmpanther:PTHR16795	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	140	0	0	140	106	46	0.302632	152
.	4:25155002	T	ENSG00000109618	ENST00000382103	Transcript	missense_variant	770	697	233	D/N	Gat/Aat	COSM5780579,COSM5780578	MODERATE	NA	-1	NA	SNV	SEPSECS	HGNC	HGNC:30605	protein_coding	YES	1	P1	CCDS3432.2	ENSP00000371535	Q9HD40	NA	UPI000020BDD0	1	deleterious(0.02)	probably_damaging(0.985)	5/11	NA	Gene3D:3.40.640.10,Pfam_domain:PF05889,PIRSF_domain:PIRSF017689,hmmpanther:PTHR12944,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR03531	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	163	0	0	163	170	15	0.081081	185
.	4:46123839	A	ENSG00000163285	ENST00000295452	Transcript	synonymous_variant	243	75	25	F	ttC/ttT	NA	LOW	NA	-1	NA	SNV	GABRG1	HGNC	HGNC:4086	protein_coding	YES	1	P1	CCDS3470.1	ENSP00000295452	Q8N1C3	NA	UPI0000047AE2	NA	NA	NA	1/9	NA	Prints_domain:PR01620,Prints_domain:PR01621,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg	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	230	0	0	230	278	20	0.067114	298
.	7:24834627	A	ENSG00000070882	ENST00000313367	Transcript	synonymous_variant	2057	1605	535	N	aaC/aaT	COSM3880328	LOW	NA	-1	NA	SNV	OSBPL3	HGNC	HGNC:16370	protein_coding	YES	1	P4	CCDS5390.1	ENSP00000315410	Q9H4L5	NA	UPI0000001244	NA	NA	NA	15/23	NA	hmmpanther:PTHR10972:SF15,hmmpanther:PTHR10972,Pfam_domain:PF01237,Superfamily_domains:0051579	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	61	0	0	61	73	8	0.098765	81
rs369228037	8:67158519	T	ENSG00000104218	ENST00000262210	Transcript	missense_variant	2330	2299	767	R/W	Cgg/Tgg	rs369228037,COSM1457921	MODERATE	NA	1	NA	SNV	CSPP1	HGNC	HGNC:26193	protein_coding	YES	1	P3	CCDS43744.1	ENSP00000262210	Q1MSJ5	NA	UPI00005A95D7	1	deleterious(0)	probably_damaging(0.998)	18/29	NA	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21616	NA	NA	NA	NA	NA	NA	0.0002688	0.0001222	1.637e-05	6.588e-05	0	0	5.832e-05	0	0	0	6.54e-05	0.0002688	AA	NA	0,1	0,1	NA	NA	NA	NA	NA	143	0	0	143	249	13	0.049618	262
.	8:67238810	G	ENSG00000066777	ENST00000262215	Transcript	missense_variant	3453	3063	1021	K/N	aaG/aaC	NA	MODERATE	NA	-1	NA	SNV	ARFGEF1	HGNC	HGNC:15772	protein_coding	YES	1	P1	CCDS6199.1	ENSP00000262215	Q9Y6D6	A0A024R7X0	UPI000013D275	NA	deleterious(0)	probably_damaging(0.999)	21/39	NA	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137	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	215	0	0	215	315	11	0.033742	326
.	8:76864333	T	ENSG00000091656	ENST00000521891	Transcript	missense_variant	11067	10619	3540	S/F	tCt/tTt	NA	MODERATE	NA	1	NA	SNV	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	5	P2	CCDS47878.2	ENSP00000430497	Q86UP3	NA	UPI0000424CC7	1	deleterious_low_confidence(0.01)	possibly_damaging(0.885)	11/11	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	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	116	0	0	116	280	13	0.044369	293
.	8:80080373	C	ENSG00000276418	ENST00000522938	Transcript	synonymous_variant,NMD_transcript_variant	403	81	27	L	ctC/ctG	NA	LOW	NA	-1	NA	SNV	AC036214.3	Clone_based_ensembl_gene	NA	nonsense_mediated_decay	YES	2	P1	NA	ENSP00000430858	NA	H0YC42	UPI0002065477	NA	NA	NA	1/8	NA	hmmpanther:PTHR19307,hmmpanther:PTHR19307:SF12,Low_complexity_(Seg):seg	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	90	0	0	90	146	15	0.093168	161
rs368249894	8:86578835	T	ENSG00000170289	ENST00000320005	Transcript	missense_variant	2005	1957	653	A/T	Gca/Aca	rs368249894,CM136015,COSM2789791	MODERATE	NA	-1	NA	SNV	CNGB3	HGNC	HGNC:2153	protein_coding	YES	1	P1	CCDS6244.1	ENSP00000316605	Q9NQW8	NA	UPI000014076F	1	tolerated(0.59)	benign(0.009)	17/18	NA	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF385	4e-04	0.0015	0	0	0	0	0.000227	0	4.875e-05	0.0003923	5.957e-05	0	0	0	8.959e-06	0	9.746e-05	0.0015	AFR	NA	0,0,1	0,1,1	NA	NA	NA	NA	NA	334	0	0	334	607	29	0.045597	636
.	19:8865952	G	ENSG00000181143	ENST00000397910	Transcript	missense_variant	42552	42348	14116	K/N	aaG/aaC	NA	MODERATE	NA	-1	NA	SNV	MUC16	HGNC	HGNC:15582	protein_coding	YES	5	P1	CCDS54212.1	ENSP00000381008	Q8WXI7	NA	UPI000065CA24	NA	NA	probably_damaging(0.974)	74/84	NA	PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Pfam_domain:PF01390,Gene3D:1ivzA00,Superfamily_domains:0047452	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	365	0	0	365	674	23	0.032999	697
.	15:23644682	T	ENSG00000254585	ENST00000532292	Transcript	missense_variant	3160	3061	1021	D/N	Gat/Aat	COSM433640,COSM1134007	MODERATE	NA	-1	NA	SNV	MAGEL2	HGNC	HGNC:6814	protein_coding	YES	NA	P1	CCDS73700.1	ENSP00000433433	Q9UJ55	NA	UPI0001B3CB28	1	tolerated_low_confidence(0.06)	benign(0.018)	1/1	NA	PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66	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	29	0	0	29	21	4	0.16	25
.	6:25471180	T	ENSG00000079691	ENST00000329474	Transcript	synonymous_variant	1070	702	234	V	gtC/gtT	COSM5194547,COSM450978,COSM1134259	LOW	NA	1	NA	SNV	CARMIL1	HGNC	HGNC:21581	protein_coding	YES	1	P1	CCDS54973.1	ENSP00000331983	Q5VZK9	NA	UPI00004588AB	NA	NA	NA	10/37	NA	Gene3D:3.80.10.10,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF39,Superfamily_domains:SSF52047	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	505	0	0	505	314	42	0.117978	356
.	6:25966609	G	ENSG00000112343	ENST00000357085	Transcript	missense_variant	563	87	29	I/M	atC/atG	COSM450992	MODERATE	NA	1	NA	SNV	TRIM38	HGNC	HGNC:10059	protein_coding	YES	1	P1	CCDS4568.1	ENSP00000349596	O00635	A0A024QZY4	UPI000013431A	NA	deleterious(0)	possibly_damaging(0.782)	3/8	NA	PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF47,Pfam_domain:PF15227,Gene3D:3.30.40.10,SMART_domains:SM00184,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	NA	NA	NA	NA	NA	333	0	0	333	277	48	0.147692	325
.	6:26250290	T	ENSG00000277775	ENST00000618052	Transcript	missense_variant	316	316	106	E/K	Gag/Aag	COSM3921203	MODERATE	NA	-1	NA	SNV	HIST1H3F	HGNC	HGNC:4773	protein_coding	YES	NA	P1	CCDS4600.1	ENSP00000484095	P68431	NA	UPI00000003C7	NA	deleterious_low_confidence(0)	benign(0.323)	1/1	NA	hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622,PDB-ENSP_mappings:2cv5.A,PDB-ENSP_mappings:2cv5.E,PDB-ENSP_mappings:3afa.A,PDB-ENSP_mappings:3afa.E,PDB-ENSP_mappings:3ayw.A,PDB-ENSP_mappings:3ayw.E,PDB-ENSP_mappings:3aze.A,PDB-ENSP_mappings:3aze.E,PDB-ENSP_mappings:3azf.A,PDB-ENSP_mappings:3azf.E,PDB-ENSP_mappings:3azg.A,PDB-ENSP_mappings:3azg.E,PDB-ENSP_mappings:3azh.A,PDB-ENSP_mappings:3azh.E,PDB-ENSP_mappings:3azi.A,PDB-ENSP_mappings:3azi.E,PDB-ENSP_mappings:3azj.A,PDB-ENSP_mappings:3azj.E,PDB-ENSP_mappings:3azk.A,PDB-ENSP_mappings:3azk.E,PDB-ENSP_mappings:3azl.A,PDB-ENSP_mappings:3azl.E,PDB-ENSP_mappings:3azm.A,PDB-ENSP_mappings:3azm.E,PDB-ENSP_mappings:3azn.A,PDB-ENSP_mappings:3azn.E,PDB-ENSP_mappings:3w96.A,PDB-ENSP_mappings:3w96.E,PDB-ENSP_mappings:3w97.A,PDB-ENSP_mappings:3w97.E,PDB-ENSP_mappings:3w98.A,PDB-ENSP_mappings:3w98.E,PDB-ENSP_mappings:3w99.A,PDB-ENSP_mappings:3w99.E,PDB-ENSP_mappings:3wa9.A,PDB-ENSP_mappings:3wa9.E,PDB-ENSP_mappings:3waa.A,PDB-ENSP_mappings:3waa.E,PDB-ENSP_mappings:3wkj.A,PDB-ENSP_mappings:3wkj.E,PDB-ENSP_mappings:3x1s.A,PDB-ENSP_mappings:3x1s.E,PDB-ENSP_mappings:3x1t.A,PDB-ENSP_mappings:3x1t.E,PDB-ENSP_mappings:3x1u.A,PDB-ENSP_mappings:3x1u.E,PDB-ENSP_mappings:3x1v.A,PDB-ENSP_mappings:3x1v.E,PDB-ENSP_mappings:4ym5.A,PDB-ENSP_mappings:4ym5.E,PDB-ENSP_mappings:4ym6.A,PDB-ENSP_mappings:4ym6.E,PDB-ENSP_mappings:4z2m.G,PDB-ENSP_mappings:4z2m.I,PDB-ENSP_mappings:5av5.A,PDB-ENSP_mappings:5av5.E,PDB-ENSP_mappings:5av6.A,PDB-ENSP_mappings:5av6.E,PDB-ENSP_mappings:5av8.A,PDB-ENSP_mappings:5av8.E,PDB-ENSP_mappings:5av9.A,PDB-ENSP_mappings:5av9.E,PDB-ENSP_mappings:5avb.A,PDB-ENSP_mappings:5avb.E,PDB-ENSP_mappings:5avc.A,PDB-ENSP_mappings:5avc.E,PDB-ENSP_mappings:5b24.A,PDB-ENSP_mappings:5b24.E,PDB-ENSP_mappings:5b2i.A,PDB-ENSP_mappings:5b2i.E,PDB-ENSP_mappings:5b2j.A,PDB-ENSP_mappings:5b2j.E,PDB-ENSP_mappings:5b31.A,PDB-ENSP_mappings:5b31.E,PDB-ENSP_mappings:5c3i.B,PDB-ENSP_mappings:5c3i.F,PDB-ENSP_mappings:5c3i.J,PDB-ENSP_mappings:5c3i.N,PDB-ENSP_mappings:5c3i.R,PDB-ENSP_mappings:5c3i.V,PDB-ENSP_mappings:5cpi.A,PDB-ENSP_mappings:5cpi.E,PDB-ENSP_mappings:5cpj.A,PDB-ENSP_mappings:5cpj.E,PDB-ENSP_mappings:5cpk.A,PDB-ENSP_mappings:5cpk.E,PDB-ENSP_mappings:5gse.A,PDB-ENSP_mappings:5gse.E,PDB-ENSP_mappings:5gse.K,PDB-ENSP_mappings:5gse.O,PDB-ENSP_mappings:5gsu.A,PDB-ENSP_mappings:5gsu.E,PDB-ENSP_mappings:5gt0.A,PDB-ENSP_mappings:5gt0.E,PDB-ENSP_mappings:5gt3.A,PDB-ENSP_mappings:5gt3.E,PDB-ENSP_mappings:5jrg.A,PDB-ENSP_mappings:5jrg.E	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	92	0	0	92	78	6	0.071429	84
.	6:28259678	A	ENSG00000189134	ENST00000343684	Transcript	missense_variant	359	307	103	E/K	Gaa/Aaa	COSM451105	MODERATE	NA	1	NA	SNV	NKAPL	HGNC	HGNC:21584	protein_coding	YES	NA	P1	CCDS34353.1	ENSP00000345716	Q5M9Q1	NA	UPI0000072A86	NA	tolerated(0.09)	benign(0.003)	1/1	NA	hmmpanther:PTHR13087,hmmpanther:PTHR13087: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	22	0	0	22	58	15	0.205479	73
.	11:124865632	G	ENSG00000154134	ENST00000397801	Transcript	missense_variant	247	55	19	L/V	Ctg/Gtg	COSM5984439,COSM5984438	MODERATE	NA	1	NA	SNV	ROBO3	HGNC	HGNC:13433	protein_coding	YES	1	P2	CCDS44755.1	ENSP00000380903	Q96MS0	NA	UPI000035AA82	1	deleterious_low_confidence(0.02)	benign(0.164)	1/28	NA	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF724,Cleavage_site_(Signalp):SignalP-noTM	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	31	0	0	31	24	3	0.111111	27
rs372447456	11:128911406	A	ENSG00000120457	ENST00000529694	Transcript	missense_variant	509	133	45	E/K	Gag/Aag	rs372447456,COSM1352504	MODERATE	NA	1	NA	SNV	KCNJ5	HGNC	HGNC:6266	protein_coding	YES	1	P1	CCDS8479.1	ENSP00000433295	P48544	NA	UPI000013D428	1	tolerated(0.49)	benign(0.107)	2/3	NA	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF52,PIRSF_domain:PIRSF005465,Prints_domain:PR01330	NA	NA	NA	NA	NA	NA	0.0002272	0	6.497e-05	0.0003268	8.933e-05	0	5.798e-05	0	1.79e-05	0	0.0001624	0.0003268	gnomAD_AFR	uncertain_significance	0,1	1,1	NA	NA	NA	NA	NA	39	0	0	39	33	4	0.108108	37
.	14:58261021	A	ENSG00000100567	ENST00000216455	Transcript	splice_donor_variant	NA	NA	NA	NA	NA	COSM433176	HIGH	NA	1	NA	SNV	PSMA3	HGNC	HGNC:9532	protein_coding	YES	1	P1	CCDS9731.1	ENSP00000216455	P25788	A0A140VK43	UPI000000D961	NA	NA	NA	NA	6/10	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	322	1	0.003096	323	233	39	0.143382	272
.	14:60646407	A	ENSG00000126778	ENST00000247182	Transcript	missense_variant	1004	731	244	S/L	tCa/tTa	NA	MODERATE	NA	-1	NA	SNV	SIX1	HGNC	HGNC:10887	protein_coding	YES	1	P1	CCDS9748.1	ENSP00000247182	Q15475	NA	UPI00001359BA	1	tolerated_low_confidence(0.39)	benign(0)	2/2	NA	hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF13	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	239	0	0	239	165	19	0.103261	184
.	14:61794948	C	ENSG00000023608	ENST00000216294	Transcript	splice_acceptor_variant	NA	NA	NA	NA	NA	NA	HIGH	NA	1	NA	SNV	SNAPC1	HGNC	HGNC:11134	protein_coding	YES	1	P1	CCDS9755.1	ENSP00000216294	Q16533	NA	UPI0000000DEB	NA	NA	NA	NA	9/9	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	235	0	0	235	177	15	0.078125	192
.	14:63998253	T	ENSG00000054654	ENST00000358025	Transcript	missense_variant	3490	3278	1093	S/L	tCa/tTa	NA	MODERATE	NA	1	NA	SNV	SYNE2	HGNC	HGNC:17084	protein_coding	YES	5	P3	CCDS9761.2	ENSP00000350719	Q8WXH0	NA	UPI00003677E5	1	deleterious(0.03)	benign(0.027)	26/116	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	129	0	0	129	107	12	0.10084	119
.	14:69339621	G	ENSG00000100626	ENST00000337827	Transcript	splice_donor_variant	NA	NA	NA	NA	NA	NA	HIGH	NA	1	NA	SNV	GALNT16	HGNC	HGNC:23233	protein_coding	YES	1	P1	CCDS32107.1	ENSP00000336729	Q8N428	Q68VJ8	UPI000004D296	NA	NA	NA	NA	11/15	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	39	1	0.025	40	25	2	0.074074	27
.	14:75681574	G	ENSG00000119685	ENST00000298832	Transcript	missense_variant	416	211	71	R/G	Cga/Gga	COSM433387,COSM1230841	MODERATE	NA	1	NA	SNV	TTLL5	HGNC	HGNC:19963	protein_coding	YES	1	P2	CCDS32124.1	ENSP00000298832	Q6EMB2	NA	UPI00003FF22B	1	deleterious(0)	possibly_damaging(0.903)	4/32	NA	PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF16	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	141	0	0	141	135	18	0.117647	153
rs775286023	5:94403700	C	ENSG00000185261	ENST00000513200	Transcript	missense_variant	2829	2756	919	S/C	tCt/tGt	rs775286023,COSM450190	MODERATE	NA	-1	NA	SNV	KIAA0825	HGNC	HGNC:28532	protein_coding	NA	5	P1	NA	ENSP00000424618	NA	A0A088AWM3	UPI0001D3B505	NA	deleterious(0)	possibly_damaging(0.847)	15/20	NA	hmmpanther:PTHR33960	NA	NA	NA	NA	NA	NA	NA	NA	1.349e-05	0	0	0	0	0	0	0	8.765e-05	8.765e-05	gnomAD_SAS	NA	0,1	0,1	NA	NA	NA	NA	NA	97	0	0	97	104	18	0.147541	122
.	5:95529083	C	ENSG00000198677	ENST00000358746	Transcript	synonymous_variant	1211	912	304	V	gtC/gtG	NA	LOW	NA	-1	NA	SNV	TTC37	HGNC	HGNC:23639	protein_coding	YES	1	P1	CCDS4072.1	ENSP00000351596	Q6PGP7	NA	UPI00000709BD	1	NA	NA	12/43	NA	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR15704,hmmpanther:PTHR15704:SF7,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	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	62	0	0	62	79	8	0.091954	87
rs776108493	5:119166766	T	ENSG00000172869	ENST00000539542	Transcript	synonymous_variant	5302	5121	1707	L	ctC/ctT	rs776108493	LOW	NA	1	NA	SNV	DMXL1	HGNC	HGNC:2937	protein_coding	YES	1	A2	CCDS75289.1	ENSP00000439479	NA	F5H269	UPI000206568B	NA	NA	NA	22/44	NA	hmmpanther:PTHR13950:SF12,hmmpanther:PTHR13950,Pfam_domain:PF12234	NA	NA	NA	NA	NA	NA	NA	NA	4.112e-06	0	0	0	0	0	9.037e-06	0	0	9.037e-06	gnomAD_NFE	NA	NA	NA	NA	NA	NA	NA	NA	71	0	0	71	72	6	0.076923	78
.	5:138186353	C	ENSG00000112984	ENST00000394894	Transcript	missense_variant	2503	2277	759	E/D	gaG/gaC	NA	MODERATE	NA	1	NA	SNV	KIF20A	HGNC	HGNC:9787	protein_coding	YES	1	P1	CCDS4199.1	ENSP00000378356	O95235	NA	UPI0000000CCE	NA	deleterious(0.04)	benign(0.029)	18/19	NA	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF352	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	127	0	0	127	105	9	0.078947	114
.	5:138257833	C	ENSG00000146013	ENST00000274721	Transcript	synonymous_variant	838	591	197	L	ctC/ctG	NA	LOW	NA	-1	NA	SNV	GFRA3	HGNC	HGNC:4245	protein_coding	YES	1	P2	CCDS4201.1	ENSP00000274721	O60609	NA	UPI0000030833	NA	NA	NA	4/8	NA	hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF15,Pfam_domain:PF02351,SMART_domains:SM00907,Prints_domain:PR01316	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	21	3	0.125	24
.	5:141101237	T	ENSG00000113205	ENST00000231130	Transcript	synonymous_variant	765	588	196	L	ctG/ctT	NA	LOW	NA	1	NA	SNV	PCDHB3	HGNC	HGNC:8688	protein_coding	YES	NA	P1	CCDS4245.1	ENSP00000231130	Q9Y5E6	NA	UPI0003CC25DF	NA	NA	NA	1/1	NA	Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,SMART_domains:SM00112,Superfamily_domains:SSF49313	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	42	0	0	42	62	21	0.253012	83
.	5:141333079	A	ENSG00000204956	ENST00000517417	Transcript	missense_variant	2395	2395	799	E/K	Gaa/Aaa	COSM6102250,COSM6102249	MODERATE	NA	1	NA	SNV	PCDHGA1	HGNC	HGNC:8696	protein_coding	YES	1	P2	CCDS54922.1	ENSP00000431083	Q9Y5H4	NA	UPI0000070596	NA	tolerated_low_confidence(0.08)	benign(0.147)	1/4	NA	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108	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	42	0	0	42	71	5	0.065789	76
.	5:146114223	T	ENSG00000133706	ENST00000394434	Transcript	synonymous_variant	3581	3414	1138	K	aaG/aaA	NA	LOW	NA	-1	NA	SNV	LARS	HGNC	HGNC:6512	protein_coding	YES	1	P1	CCDS34265.1	ENSP00000377954	Q9P2J5	NA	UPI0000037316	1	NA	NA	32/32	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	51	0	0	51	133	8	0.056738	141
.	5:150036851	G	ENSG00000113716	ENST00000502717	Transcript	missense_variant	2663	2199	733	I/M	atC/atG	NA	MODERATE	NA	1	NA	SNV	HMGXB3	HGNC	HGNC:28982	protein_coding	YES	1	P2	CCDS54935.1	ENSP00000421917	Q12766	NA	UPI00001C1E29	NA	tolerated(0.11)	benign(0.172)	12/20	NA	hmmpanther:PTHR17609:SF2,hmmpanther:PTHR17609	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	140	0	0	140	136	11	0.07483	147
.	3:100866912	G	ENSG00000154175	ENST00000284322	Transcript	missense_variant	1086	976	326	E/Q	Gag/Cag	NA	MODERATE	NA	-1	NA	SNV	ABI3BP	HGNC	HGNC:17265	protein_coding	YES	1	P2	CCDS46880.1	ENSP00000284322	Q7Z7G0	NA	UPI000011C136	NA	tolerated(0.06)	possibly_damaging(0.521)	10/35	NA	hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF10	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	83	0	0	83	112	6	0.050847	118
.	3:113330634	G	ENSG00000206530	ENST00000393845	Transcript	missense_variant	3717	3650	1217	I/T	aTt/aCt	COSM445317	MODERATE	NA	-1	NA	SNV	CFAP44	HGNC	HGNC:25631	protein_coding	YES	5	A2	CCDS54624.1	ENSP00000377428	Q96MT7	NA	UPI0000367198	1	deleterious(0)	possibly_damaging(0.86)	26/35	NA	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18	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	68	0	0	68	112	19	0.145038	131
.	3:123130567	T	ENSG00000065485	ENST00000316218	Transcript	synonymous_variant	956	861	287	D	gaC/gaT	NA	LOW	NA	1	NA	SNV	PDIA5	HGNC	HGNC:24811	protein_coding	YES	1	P1	CCDS3020.1	ENSP00000323313	Q14554	NA	UPI000013148A	NA	NA	NA	11/17	NA	Gene3D:3.40.30.10,Pfam_domain:PF00085,PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF103,Superfamily_domains:SSF52833	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	39	0	0	39	68	7	0.093333	75
.	19:15742037	T	ENSG00000171936	ENST00000641646	Transcript	synonymous_variant	723	645	215	L	ctC/ctT	NA	LOW	NA	1	NA	SNV	OR10H3	HGNC	HGNC:8174	protein_coding	YES	NA	P1	CCDS12334.1	ENSP00000493287	NA	A0A126GW93	UPI0000041DB5	NA	NA	NA	2/2	NA	PROSITE_profiles:PS50262,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	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	376	0	0	376	605	40	0.062016	645
rs758776096	2:15234577	G	ENSG00000151779	ENST00000281513	Transcript	missense_variant	6140	6114	2038	Q/H	caG/caC	rs758776096	MODERATE	NA	-1	NA	SNV	NBAS	HGNC	HGNC:15625	protein_coding	YES	1	P1	CCDS1685.1	ENSP00000281513	A2RRP1	NA	UPI00001AEA68	1	tolerated(0.24)	benign(0)	46/52	NA	hmmpanther:PTHR15922	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	34	0	0	34	35	3	0.078947	38
.	2:26467431	G	ENSG00000115155	ENST00000272371	Transcript	missense_variant	4288	4161	1387	Q/H	caG/caC	COSM442712,COSM442711,COSM1134143	MODERATE	NA	-1	NA	SNV	OTOF	HGNC	HGNC:8515	protein_coding	YES	1	P1	CCDS1725.1	ENSP00000272371	Q9HC10	NA	UPI000013D94D	1	tolerated(0.09)	benign(0.288)	34/47	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	NA	NA	NA	NA	NA	55	0	0	55	68	8	0.105263	76
.	2:27378768	G	ENSG00000163795	ENST00000323703	Transcript	missense_variant	697	498	166	K/N	aaG/aaC	NA	MODERATE	NA	-1	NA	SNV	ZNF513	HGNC	HGNC:26498	protein_coding	YES	1	P1	CCDS1751.1	ENSP00000318373	Q8N8E2	NA	UPI00000437BA	1	deleterious(0)	probably_damaging(0.992)	3/4	NA	Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF160,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	NA	NA	NA	NA	NA	NA	NA	42	0	0	42	40	5	0.111111	45
.	2:44332509	G	ENSG00000138078	ENST00000409936	Transcript	missense_variant	1741	1303	435	D/H	Gac/Cac	NA	MODERATE	NA	-1	NA	SNV	PREPL	HGNC	HGNC:30228	protein_coding	YES	1	P3	CCDS33190.1	ENSP00000386543	Q4J6C6	NA	UPI0000208358	1	tolerated(0.15)	benign(0.04)	9/15	NA	hmmpanther:PTHR11757,hmmpanther:PTHR11757:SF12,Gene3D:3.40.50.1820	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	159	0	0	159	232	11	0.045267	243
.	2:50631136	G	ENSG00000179915	ENST00000404971	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	NRXN1	HGNC	HGNC:8008	protein_coding	YES	1	NA	CCDS46282.1	ENSP00000385142	Q9ULB1	NA	UPI00015A218A	1	NA	NA	NA	6/23	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	35	0	0	35	53	5	0.086207	58
.	2:55252586	T	ENSG00000085760	ENST00000263629	Transcript	missense_variant	1048	732	244	M/I	atG/atA	NA	MODERATE	NA	-1	NA	SNV	MTIF2	HGNC	HGNC:7441	protein_coding	YES	1	P1	CCDS1853.1	ENSP00000263629	P46199	NA	UPI000013D42F	NA	tolerated(0.06)	possibly_damaging(0.606)	8/16	NA	Gene3D:3.40.50.300,HAMAP:MF_00100_B,Pfam_domain:PF00009,PROSITE_profiles:PS51722,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF184,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231	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	95	0	0	95	104	11	0.095652	115
.	2:64592011	G	ENSG00000119844	ENST00000238855	Transcript	missense_variant	3127	2787	929	S/R	agC/agG	NA	MODERATE	NA	1	NA	SNV	AFTPH	HGNC	HGNC:25951	protein_coding	YES	5	A2	CCDS46303.1	ENSP00000238855	Q6ULP2	NA	UPI00003E1F8E	NA	tolerated(0.14)	benign(0.003)	10/10	NA	hmmpanther:PTHR16156,hmmpanther:PTHR16156:SF9	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	202	0	0	202	201	11	0.051887	212
.	2:68545311	C	ENSG00000169621	ENST00000303795	Transcript	splice_region_variant,synonymous_variant	1456	1285	429	R	Agg/Cgg	NA	LOW	NA	1	NA	SNV	APLF	HGNC	HGNC:28724	protein_coding	YES	1	P1	CCDS1888.1	ENSP00000307004	Q8IW19	NA	UPI0000074578	NA	NA	NA	8/10	NA	PDB-ENSP_mappings:2kqb.A,PDB-ENSP_mappings:2kqc.A,PDB-ENSP_mappings:2kqd.A,PDB-ENSP_mappings:2kqe.A,PDB-ENSP_mappings:2kuo.A,Pfam_domain:PF10283,hmmpanther:PTHR21315	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	155	0	0	155	262	16	0.057554	278
.	2:70833741	C	ENSG00000116031	ENST00000410009	Transcript	stop_gained	516	470	157	L/*	tTa/tGa	NA	HIGH	NA	-1	NA	SNV	CD207	HGNC	HGNC:17935	protein_coding	YES	1	P1	CCDS74520.1	ENSP00000386378	Q9UJ71	NA	UPI0000410F0C	1	NA	NA	3/6	NA	Gene3D:1.20.1170.10,PDB-ENSP_mappings:3kqg.A,PDB-ENSP_mappings:3kqg.B,PDB-ENSP_mappings:3kqg.C,PDB-ENSP_mappings:3kqg.D,PDB-ENSP_mappings:3kqg.E,PDB-ENSP_mappings:3kqg.F,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF14	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	170	0	0	170	190	9	0.045226	199
.	2:73221855	G	ENSG00000135632	ENST00000389501	Transcript	synonymous_variant	612	567	189	L	ctC/ctG	NA	LOW	NA	1	NA	SNV	SMYD5	HGNC	HGNC:16258	protein_coding	YES	1	P1	CCDS33221.2	ENSP00000374152	Q6GMV2	NA	UPI0000161654	NA	NA	NA	6/13	NA	PROSITE_profiles:PS50280,hmmpanther:PTHR12197:SF183,hmmpanther:PTHR12197,Pfam_domain:PF00856,SMART_domains:SM00317	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	62	0	0	62	135	9	0.0625	144
.	2:85550703	A	ENSG00000115486	ENST00000233838	Transcript	missense_variant	2017	1936	646	V/L	Gta/Tta	NA	MODERATE	NA	-1	NA	SNV	GGCX	HGNC	HGNC:4247	protein_coding	YES	1	P1	CCDS1978.1	ENSP00000233838	P38435	NA	UPI0000000DD6	1	tolerated_low_confidence(0.37)	benign(0.003)	14/15	NA	hmmpanther:PTHR12639,hmmpanther:PTHR12639: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	265	0	0	265	438	5	0.011287	443
.	3:15690041	G	ENSG00000206560	ENST00000399451	Transcript	missense_variant	2219	1851	617	K/N	aaG/aaC	NA	MODERATE	NA	-1	NA	SNV	ANKRD28	HGNC	HGNC:29024	protein_coding	YES	2	P1	CCDS46769.1	ENSP00000382379	O15084	A0A024R2G8	UPI00004120FF	NA	tolerated(0.09)	benign(0.098)	18/28	NA	Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF22,SMART_domains:SM00248	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	222	0	0	222	259	23	0.08156	282
.	8:93804814	T	ENSG00000164953	ENST00000453321	Transcript	missense_variant	2433	2375	792	R/I	aGa/aTa	NA	MODERATE	NA	1	NA	SNV	TMEM67	HGNC	HGNC:28396	protein_coding	YES	1	P1	CCDS6258.2	ENSP00000389998	Q5HYA8	NA	UPI0000D624E9	1	deleterious(0)	probably_damaging(0.992)	23/28	NA	Pfam_domain:PF09773,hmmpanther:PTHR21274	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	81	0	0	81	161	12	0.069364	173
.	8:94378186	C	ENSG00000197275	ENST00000336148	Transcript	missense_variant	2634	2509	837	H/D	Cat/Gat	NA	MODERATE	NA	-1	NA	SNV	RAD54B	HGNC	HGNC:17228	protein_coding	YES	1	P1	CCDS6262.1	ENSP00000336606	Q9Y620	NA	UPI0000070088	1	tolerated(0.35)	benign(0)	14/15	NA	Superfamily_domains:SSF52540	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	79	0	0	79	177	9	0.048387	186
.	8:94505818	C	ENSG00000164944	ENST00000297591	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	VIRMA	HGNC	HGNC:24500	protein_coding	YES	1	P3	CCDS34923.1	ENSP00000297591	Q69YN4	NA	UPI00001BBB23	NA	NA	NA	NA	16/23	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	29	0	0	29	58	1	0.016949	59
.	8:94939954	A	ENSG00000164938	ENST00000342697	Transcript	missense_variant	787	379	127	P/S	Ccc/Tcc	NA	MODERATE	NA	-1	NA	SNV	TP53INP1	HGNC	HGNC:18022	protein_coding	YES	1	P1	CCDS6265.1	ENSP00000344215	Q96A56	A0A024R9C8	UPI00000725F8	NA	deleterious(0)	probably_damaging(0.999)	3/4	NA	blastprodom:PD485813,Pfam_domain:PF14839,hmmpanther:PTHR31671,hmmpanther:PTHR31671:SF0	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	146	0	0	146	333	10	0.029155	343
.	8:97851484	C	ENSG00000104341	ENST00000445593	Transcript	3_prime_UTR_variant	1644	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	LAPTM4B	HGNC	HGNC:13646	protein_coding	YES	1	NA	CCDS6275.1	ENSP00000402301	Q86VI4	NA	UPI000018F5E2	NA	NA	NA	7/7	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	169	0	0	169	205	84	0.290657	289
.	8:100529582	A	ENSG00000186106	ENST00000520552	Transcript	synonymous_variant	414	252	84	L	ctC/ctT	NA	LOW	NA	-1	NA	SNV	ANKRD46	HGNC	HGNC:27229	protein_coding	YES	1	NA	CCDS59109.1	ENSP00000429015	Q86W74	A0A024R9G2	UPI000018CE82	NA	NA	NA	3/6	NA	Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF28,SMART_domains:SM00248,Superfamily_domains:SSF48403	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	112	0	0	112	178	7	0.037838	185
rs777032848	1:179043868	T	ENSG00000116199	ENST00000263733	Transcript	synonymous_variant	357	21	7	V	gtC/gtT	rs777032848,COSM424689	LOW	NA	1	NA	SNV	FAM20B	HGNC	HGNC:23017	protein_coding	YES	1	P1	CCDS1328.1	ENSP00000263733	O75063	A0A024R918	UPI000000DB7F	NA	NA	NA	2/8	NA	hmmpanther:PTHR12450,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg	NA	NA	NA	NA	NA	NA	NA	NA	1.639e-05	0.0001308	2.99e-05	0	0	0	9.031e-06	0	0	0.0001308	gnomAD_AFR	NA	0,1	0,1	NA	NA	NA	NA	NA	137	0	0	137	126	30	0.192308	156
.	1:179108338	C	ENSG00000143322	ENST00000502732	Transcript	missense_variant	3133	2929	977	R/G	Cgg/Ggg	NA	MODERATE	NA	-1	NA	SNV	ABL2	HGNC	HGNC:77	protein_coding	YES	1	P3	CCDS30947.1	ENSP00000427562	P42684	NA	UPI0000125140	1	tolerated_low_confidence(0.11)	possibly_damaging(0.483)	12/12	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	NA	NA	NA	NA	NA	NA	NA	117	0	0	117	220	9	0.039301	229
.	1:180087623	C	ENSG00000135837	ENST00000367607	Transcript	missense_variant	6749	6331	2111	D/H	Gat/Cat	NA	MODERATE	NA	1	NA	SNV	CEP350	HGNC	HGNC:24238	protein_coding	YES	1	P1	CCDS1336.1	ENSP00000356579	Q5VT06	NA	UPI000013CFC5	NA	deleterious(0)	probably_damaging(0.997)	32/38	NA	hmmpanther:PTHR13958,hmmpanther:PTHR13958:SF4	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	60	0	0	60	60	4	0.0625	64
.	2:186747201	A	ENSG00000144369	ENST00000304698	Transcript	synonymous_variant	878	675	225	L	ttG/ttA	COSM441964	LOW	NA	1	NA	SNV	FAM171B	HGNC	HGNC:29412	protein_coding	YES	1	P1	CCDS33347.1	ENSP00000304108	Q6P995	NA	UPI0000161631	NA	NA	NA	4/8	NA	Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF2	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	70	0	0	70	94	18	0.160714	112
.	2:189035114	G	ENSG00000204262	ENST00000374866	Transcript	synonymous_variant	4430	4155	1385	T	acT/acC	NA	LOW	NA	-1	NA	SNV	COL5A2	HGNC	HGNC:2210	protein_coding	YES	1	P1	CCDS33350.1	ENSP00000364000	P05997	NA	UPI00006C511C	1	NA	NA	53/54	NA	PROSITE_profiles:PS51461,hmmpanther:PTHR24023:SF539,hmmpanther:PTHR24023,Pfam_domain:PF01410,SMART_domains:SM00038	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	182	0	0	182	231	16	0.064777	247
.	19:18920620	A	ENSG00000105671	ENST00000247003	Transcript	synonymous_variant	223	156	52	K	aaG/aaA	NA	LOW	NA	1	NA	SNV	DDX49	HGNC	HGNC:18684	protein_coding	YES	1	P1	CCDS12390.1	ENSP00000247003	Q9Y6V7	NA	UPI000006E7E7	NA	NA	NA	2/13	NA	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF240,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487	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	163	0	0	163	130	9	0.064748	139
rs770175549	11:12256869	T	ENSG00000133816	ENST00000256194	Transcript	missense_variant	3328	3040	1014	R/W	Cgg/Tgg	rs770175549	MODERATE	NA	1	NA	SNV	MICAL2	HGNC	HGNC:24693	protein_coding	YES	1	P3	CCDS7809.1	ENSP00000256194	O94851	NA	UPI000000DA92	NA	deleterious(0)	probably_damaging(1)	24/28	NA	PROSITE_profiles:PS50023,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716	NA	NA	NA	NA	NA	NA	NA	NA	1.625e-05	0	0	0	5.798e-05	0	0	0	9.746e-05	9.746e-05	gnomAD_SAS	NA	NA	NA	NA	NA	NA	NA	NA	63	0	0	63	55	5	0.083333	60
.	11:14475844	C	ENSG00000129083	ENST00000249923	Transcript	synonymous_variant	1858	1557	519	G	ggT/ggG	NA	LOW	NA	-1	NA	SNV	COPB1	HGNC	HGNC:2231	protein_coding	YES	1	P1	CCDS7815.1	ENSP00000249923	P53618	NA	UPI000000103D	NA	NA	NA	13/22	NA	hmmpanther:PTHR10635,Pfam_domain:PF01602,PIRSF_domain:PIRSF005727	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	170	0	0	170	205	17	0.076577	222
.	11:19229669	T	ENSG00000129173	ENST00000620009	Transcript	missense_variant	2001	1678	560	D/N	Gat/Aat	COSM428809,COSM3446157	MODERATE	NA	-1	NA	SNV	E2F8	HGNC	HGNC:24727	protein_coding	YES	5	P1	CCDS7849.1	ENSP00000481103	A0AVK6	NA	UPI00001F9E94	NA	tolerated(0.26)	benign(0.15)	10/13	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	76	0	0	76	77	11	0.125	88
.	11:20159243	G	ENSG00000109851	ENST00000524983	Transcript	synonymous_variant	706	417	139	F	ttT/ttC	NA	LOW	NA	-1	NA	SNV	DBX1	HGNC	HGNC:33185	protein_coding	YES	5	P1	NA	ENSP00000436881	A6NMT0	NA	UPI000013C8B1	NA	NA	NA	2/4	NA	hmmpanther:PTHR24331:SF6,hmmpanther:PTHR24331	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	410	0	0	410	554	51	0.084298	605
.	19:19711961	G	ENSG00000105708	ENST00000344099	Transcript	synonymous_variant	1459	1320	440	T	acT/acC	NA	LOW	NA	-1	NA	SNV	ZNF14	HGNC	HGNC:12924	protein_coding	YES	1	P1	CCDS12409.1	ENSP00000340514	P17017	NA	UPI00001E058E	NA	NA	NA	4/4	NA	Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF31,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	NA	NA	NA	NA	NA	NA	NA	99	0	0	99	138	7	0.048276	145
.	19:21972338	A	ENSG00000160321	ENST00000397126	Transcript	missense_variant	2845	2696	899	S/I	aGt/aTt	rs986677091	MODERATE	NA	-1	NA	SNV	ZNF208	HGNC	HGNC:12999	protein_coding	YES	3	P1	CCDS54240.1	ENSP00000380315	O43345	NA	UPI0001B23C28	NA	tolerated(0.26)	benign(0.013)	4/4	NA	PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF103,hmmpanther:PTHR24375,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	NA	NA	NA	NA	NA	NA	NA	26	0	0	26	41	3	0.068182	44
.	12:7070072	A	ENSG00000182326	ENST00000406697	Transcript	synonymous_variant	2116	1488	496	R	cgG/cgA	NA	LOW	NA	1	NA	SNV	C1S	HGNC	HGNC:1247	protein_coding	YES	2	P2	CCDS31735.1	ENSP00000385035	P09871	NA	UPI0000126BF6	1	NA	NA	15/15	NA	PROSITE_profiles:PS50240,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF11,PIRSF_domain:PIRSF001155,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,PDB-ENSP_mappings:1elv.A,PDB-ENSP_mappings:4j1y.A,PDB-ENSP_mappings:4j1y.B	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	207	0	0	207	229	14	0.057613	243
rs761515826	12:8222464	C	ENSG00000171847	ENST00000538603	Transcript	synonymous_variant	1312	753	251	L	ctC/ctG	rs761515826,COSM1993946	LOW	NA	-1	NA	SNV	FAM90A1	HGNC	HGNC:25526	protein_coding	YES	1	P1	CCDS31738.1	ENSP00000445418	Q86YD7	NA	UPI000013EC10	NA	NA	NA	7/7	NA	hmmpanther:PTHR16035,hmmpanther:PTHR16035:SF9	NA	NA	NA	NA	NA	NA	NA	NA	0.0002328	0	0	0	0	0.002514	9.035e-06	0	0	0.002514	gnomAD_FIN	NA	0,1	0,1	NA	NA	NA	NA	NA	24	0	0	24	50	7	0.122807	57
.	17:10362477	C	ENSG00000006788	ENST00000418404	Transcript	synonymous_variant	395	231	77	V	gtC/gtG	NA	LOW	NA	-1	NA	SNV	MYH13	HGNC	HGNC:7571	protein_coding	YES	5	P1	CCDS45613.1	ENSP00000404570	Q9UKX3	NA	UPI0000DB39EA	NA	NA	NA	3/40	NA	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF504,Superfamily_domains:SSF52540	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	468	0	0	468	519	36	0.064865	555
.	12:69574090	G	ENSG00000166225	ENST00000550389	Transcript	missense_variant	908	662	221	S/C	tCt/tGt	COSM3812903,COSM3812902	MODERATE	NA	1	NA	SNV	FRS2	HGNC	HGNC:16971	protein_coding	YES	1	P1	CCDS41809.1	ENSP00000447241	Q8WU20	L7RTG7	UPI000003F143	NA	deleterious(0.02)	benign(0.431)	7/7	NA	hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF40	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	32	0	0	32	54	5	0.084746	59
.	12:80328701	C	ENSG00000165899	ENST00000458043	Transcript	missense_variant	4215	4209	1403	M/I	atG/atC	NA	MODERATE	NA	1	NA	SNV	OTOGL	HGNC	HGNC:26901	protein_coding	YES	5	P5	NA	ENSP00000400895	NA	A0A0A0MSS2	UPI0001D089C5	1	deleterious(0)	probably_damaging(0.986)	35/58	NA	Gene3D:2.10.25.10,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225	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	183	0	0	183	200	15	0.069767	215
.	12:81152044	T	ENSG00000111058	ENST00000548058	Transcript	missense_variant	1956	1046	349	S/F	tCc/tTc	COSM1993469	MODERATE	NA	1	NA	SNV	ACSS3	HGNC	HGNC:24723	protein_coding	YES	1	P3	CCDS9022.1	ENSP00000449535	Q9H6R3	NA	UPI000007060A	NA	deleterious(0)	probably_damaging(0.916)	7/16	NA	Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF199,Superfamily_domains:SSF56801	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	269	15	0.052817	284
.	12:96295076	G	ENSG00000059758	ENST00000261211	Transcript	missense_variant	1524	920	307	R/T	aGa/aCa	COSM5933002,COSM5933001	MODERATE	NA	-1	NA	SNV	CDK17	HGNC	HGNC:8750	protein_coding	YES	1	P1	CCDS9061.1	ENSP00000261211	Q00537	A0A024RBH0	UPI000006F45A	NA	deleterious(0)	possibly_damaging(0.732)	10/17	NA	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF128,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,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	NA	NA	NA	NA	NA	147	0	0	147	160	11	0.064327	171
.	19:49616115	T	ENSG00000126464	ENST00000418929	Transcript	missense_variant	5405	5393	1798	R/M	aGg/aTg	NA	MODERATE	NA	1	NA	SNV	PRR12	HGNC	HGNC:29217	protein_coding	YES	5	P2	CCDS46143.1	ENSP00000394510	Q9ULL5	NA	UPI0001596889	NA	deleterious(0)	probably_damaging(0.964)	9/14	NA	hmmpanther:PTHR14709,hmmpanther:PTHR14709: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	118	0	0	118	191	8	0.040201	199
.	19:51769075	A	ENSG00000171049	ENST00000598776	Transcript	synonymous_variant	1189	417	139	V	gtG/gtA	NA	LOW	NA	1	NA	SNV	FPR2	HGNC	HGNC:3827	protein_coding	YES	1	P1	CCDS12840.1	ENSP00000468897	P25090	A0A024R4P3	UPI00000012D0	NA	NA	NA	2/2	NA	PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF16,hmmpanther:PTHR24225,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00526	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	338	0	0	338	484	24	0.047244	508
.	19:52511353	T	ENSG00000258405	ENST00000421239	Transcript	synonymous_variant	1216	972	324	F	ttC/ttT	NA	LOW	NA	1	NA	SNV	ZNF578	HGNC	HGNC:26449	protein_coding	YES	2	P1	CCDS54310.1	ENSP00000459216	Q96N58	NA	UPI000048A457	NA	NA	NA	6/6	NA	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,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	NA	NA	NA	NA	NA	NA	NA	118	0	0	118	175	8	0.043716	183
.	19:52705030	T	ENSG00000213020	ENST00000543227	Transcript	synonymous_variant	2300	2025	675	E	gaG/gaA	NA	LOW	NA	-1	NA	SNV	ZNF611	HGNC	HGNC:28766	protein_coding	YES	4	P1	CCDS12855.1	ENSP00000437616	Q8N823	NA	UPI00001406C1	NA	NA	NA	6/6	NA	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF375,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	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	83	0	0	83	146	9	0.058065	155
.	19:53708762	C	ENSG00000283490	ENST00000384822	Transcript	mature_miRNA_variant	28	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	MIR518C	HGNC	HGNC:32109	miRNA	YES	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1/1	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	237	0	0	237	283	13	0.043919	296
.	2:219639723	C	ENSG00000114923	ENST00000273063	Transcript	missense_variant	3560	3346	1116	A/P	Gcc/Ccc	NA	MODERATE	NA	1	NA	SNV	SLC4A3	HGNC	HGNC:11029	protein_coding	YES	1	P4	CCDS2446.1	ENSP00000273063	P48751	NA	UPI000022BE50	NA	deleterious(0)	probably_damaging(0.921)	20/23	NA	Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix	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	66	7	0.09589	73
.	2:222630175	T	ENSG00000116120	ENST00000281828	Transcript	splice_acceptor_variant	NA	NA	NA	NA	NA	NA	HIGH	NA	-1	NA	SNV	FARSB	HGNC	HGNC:17800	protein_coding	YES	1	P1	CCDS2454.1	ENSP00000281828	Q9NSD9	NA	UPI00002096AC	NA	NA	NA	NA	8/16	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	84	0	0	84	98	20	0.169492	118
.	2:224845221	C	ENSG00000135905	ENST00000258390	Transcript	synonymous_variant	2531	2463	821	Q	caA/caG	NA	LOW	NA	-1	NA	SNV	DOCK10	HGNC	HGNC:23479	protein_coding	YES	5	P3	CCDS46528.1	ENSP00000258390	Q96BY6	NA	UPI000021D2A7	NA	NA	NA	21/56	NA	PROSITE_profiles:PS51650,hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317,Pfam_domain:PF14429	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	115	0	0	115	138	9	0.061224	147
.	1:13779089	A	ENSG00000116731	ENST00000235372	Transcript	missense_variant	2150	1294	432	D/N	Gat/Aat	NA	MODERATE	NA	1	NA	SNV	PRDM2	HGNC	HGNC:9347	protein_coding	YES	1	P3	CCDS150.1	ENSP00000235372	Q13029	NA	UPI000013C9CD	NA	tolerated(0.12)	benign(0)	8/10	NA	PIRSF_domain:PIRSF002395	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	78	0	0	78	116	9	0.072	125
.	1:15289426	A	ENSG00000142621	ENST00000358897	Transcript	missense_variant	466	328	110	A/T	Gca/Aca	NA	MODERATE	NA	1	NA	SNV	FHAD1	HGNC	HGNC:29408	protein_coding	YES	5	P1	NA	ENSP00000351770	B1AJZ9	NA	UPI0001761703	NA	tolerated(0.6)	benign(0.003)	4/31	NA	hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF7,Low_complexity_(Seg):seg	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	388	0	0	388	487	29	0.056202	516
.	1:19683171	T	ENSG00000158748	ENST00000289753	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	NA	MODIFIER	3609	1	NA	SNV	HTR6	HGNC	HGNC:5301	protein_coding	YES	1	P1	CCDS197.1	ENSP00000289753	P50406	NA	UPI00000503E0	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	NA	45	0	0	45	70	6	0.078947	76
rs373189918	1:30877104	T	ENSG00000162512	ENST00000339394	Transcript	synonymous_variant	493	318	106	A	gcG/gcA	rs373189918	LOW	NA	-1	NA	SNV	SDC3	HGNC	HGNC:10660	protein_coding	YES	1	P2	CCDS30661.1	ENSP00000344468	O75056	NA	UPI000045619B	1	NA	NA	3/5	NA	hmmpanther:PTHR10915,hmmpanther:PTHR10915:SF7	NA	NA	NA	NA	NA	NA	0	0.0001163	6.171e-05	6.586e-05	0	0	0	0	0.0001283	0	0	0.0001283	gnomAD_NFE	NA	NA	NA	NA	NA	NA	NA	NA	53	0	0	53	60	11	0.15493	71
.	10:122591510	C	ENSG00000187908	ENST00000368909	Transcript	synonymous_variant	2275	2169	723	S	tcG/tcC	NA	LOW	NA	1	NA	SNV	DMBT1	HGNC	HGNC:2926	protein_coding	YES	5	P4	CCDS44490.1	ENSP00000357905	Q9UGM3	NA	UPI000047021C	NA	NA	NA	19/53	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	130	0	0	130	282	17	0.056856	299
.	7:151001824	T	ENSG00000164867	ENST00000297494	Transcript	synonymous_variant	1863	1506	502	A	gcC/gcT	NA	LOW	NA	1	NA	SNV	NOS3	HGNC	HGNC:7876	protein_coding	YES	1	P1	CCDS5912.1	ENSP00000297494	P29474	NA	UPI000013E417	1	NA	NA	13/27	NA	PIRSF_domain:PIRSF000333,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66	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	38	0	0	38	37	4	0.097561	41
.	7:155766618	T	ENSG00000184863	ENST00000401878	Transcript	missense_variant	3536	3338	1113	Q/L	cAg/cTg	NA	MODERATE	NA	1	NA	SNV	RBM33	HGNC	HGNC:27223	protein_coding	YES	5	P2	CCDS5941.2	ENSP00000384160	Q96EV2	NA	UPI00015743D7	NA	deleterious(0)	probably_damaging(0.99)	16/18	NA	Gene3D:3.30.70.330,hmmpanther:PTHR22014,SMART_domains:SM00360,Superfamily_domains:SSF54928	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	33	0	0	33	45	5	0.1	50
.	15:94402009	C	ENSG00000140563	ENST00000357742	Transcript	missense_variant	2075	2075	692	I/T	aTa/aCa	COSM5194442,COSM434575	MODERATE	NA	1	NA	SNV	MCTP2	HGNC	HGNC:25636	protein_coding	YES	1	P1	CCDS32338.1	ENSP00000350377	Q6DN12	NA	UPI0000D613A2	1	tolerated(0.26)	benign(0.006)	16/22	NA	hmmpanther:PTHR10774:SF78,hmmpanther:PTHR10774	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	133	0	0	133	121	16	0.116788	137
.	8:17413327	T	ENSG00000003987	ENST00000180173	Transcript	5_prime_UTR_variant	1	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	MTMR7	HGNC	HGNC:7454	protein_coding	YES	1	P1	CCDS34851.1	ENSP00000180173	Q9Y216	NA	UPI00004DFD27	NA	NA	NA	1/14	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	15	0	0	15	20	11	0.354839	31
.	8:24392275	A	ENSG00000134028	ENST00000256412	Transcript	synonymous_variant	322	102	34	K	aaG/aaA	COSM2786847,COSM454331	LOW	NA	1	NA	SNV	ADAMDEC1	HGNC	HGNC:16299	protein_coding	YES	1	P3	CCDS6044.1	ENSP00000256412	O15204	NA	UPI0000073385	NA	NA	NA	2/14	NA	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF125	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	65	0	0	65	57	9	0.136364	66
.	8:25369595	C	ENSG00000147459	ENST00000276440	Transcript	missense_variant	3522	3478	1160	E/Q	Gaa/Caa	NA	MODERATE	NA	1	NA	SNV	DOCK5	HGNC	HGNC:23476	protein_coding	YES	1	P1	CCDS6047.1	ENSP00000276440	Q9H7D0	NA	UPI000022D4F3	NA	deleterious(0)	probably_damaging(0.987)	34/52	NA	hmmpanther:PTHR23317:SF68,hmmpanther:PTHR23317,Pfam_domain:PF06920,Superfamily_domains:SSF48371	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	133	0	0	133	193	20	0.093897	213
rs150062151	8:30847167	A	ENSG00000133863	ENST00000256246	Transcript	synonymous_variant	1851	1851	617	D	gaC/gaT	rs150062151	LOW	NA	-1	NA	SNV	TEX15	HGNC	HGNC:11738	protein_coding	YES	1	NA	CCDS6080.1	ENSP00000256246	Q9BXT5	NA	UPI000013CEF9	NA	NA	NA	1/4	NA	hmmpanther:PTHR22380	NA	NA	NA	NA	NA	NA	0	0.0004651	3.255e-05	6.537e-05	2.979e-05	0	0	0	4.492e-05	0	3.25e-05	0.0004651	EA	NA	NA	NA	NA	NA	NA	NA	NA	37	0	0	37	33	4	0.108108	37
.	10:44991911	G	ENSG00000107551	ENST00000340258	Transcript	missense_variant	927	814	272	Q/E	Cag/Gag	NA	MODERATE	NA	1	NA	SNV	RASSF4	HGNC	HGNC:20793	protein_coding	YES	1	P1	CCDS7208.1	ENSP00000339692	Q9H2L5	NA	UPI000006F93A	NA	deleterious(0)	possibly_damaging(0.64)	10/11	NA	PROSITE_profiles:PS50951,hmmpanther:PTHR22738:SF4,hmmpanther:PTHR22738	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	86	0	0	86	162	8	0.047059	170
.	17:29094938	G	ENSG00000196535	ENST00000527372	Transcript	missense_variant,splice_region_variant	4688	4507	1503	E/Q	Gag/Cag	COSM3515593,COSM3515592	MODERATE	NA	-1	NA	SNV	MYO18A	HGNC	HGNC:31104	protein_coding	YES	1	P3	CCDS45642.1	ENSP00000437073	Q92614	NA	UPI0000167F32	NA	tolerated(0.48)	benign(0.099)	29/42	NA	hmmpanther:PTHR13140:SF421,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257	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	58	0	0	58	71	6	0.077922	77
.	8:130909858	A	ENSG00000155897	ENST00000286355	Transcript	missense_variant	3583	1490	497	R/L	cGg/cTg	COSM454023	MODERATE	NA	-1	NA	SNV	ADCY8	HGNC	HGNC:239	protein_coding	YES	1	P1	CCDS6363.1	ENSP00000286355	P40145	A0A0K0K1K3	UPI000012887C	NA	deleterious(0)	probably_damaging(0.999)	6/18	NA	Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF320,SMART_domains:SM00044,Superfamily_domains:SSF55073	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	164	0	0	164	196	65	0.249042	261
.	8:132836677	T	ENSG00000129292	ENST00000395386	Transcript	stop_gained	2346	2047	683	R/*	Cga/Tga	COSM1597462,COSM204361	HIGH	NA	1	NA	SNV	PHF20L1	HGNC	HGNC:24280	protein_coding	YES	5	P3	CCDS6367.2	ENSP00000378784	A8MW92	NA	UPI0000DBD7AF	NA	NA	NA	16/21	NA	Gene3D:3.30.40.10,hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF26,Superfamily_domains:SSF57903	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	273	0	0	273	303	19	0.059006	322
.	2:132781201	T	ENSG00000176771	ENST00000409261	Transcript	missense_variant	5274	4900	1634	E/K	Gaa/Aaa	COSM5496066	MODERATE	NA	-1	NA	SNV	NCKAP5	HGNC	HGNC:29847	protein_coding	YES	5	P2	CCDS46418.1	ENSP00000387128	O14513	NA	UPI0000E07A3F	NA	deleterious(0.03)	benign(0.058)	15/20	NA	Pfam_domain:PF15246,hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0	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	158	0	0	158	185	15	0.075	200
.	2:141049220	A	ENSG00000168702	ENST00000389484	Transcript	missense_variant,splice_region_variant	2527	1555	519	P/S	Cca/Tca	NA	MODERATE	NA	-1	NA	SNV	LRP1B	HGNC	HGNC:6693	protein_coding	YES	1	P1	CCDS2182.1	ENSP00000374135	Q9NZR2	NA	UPI00001B045B	1	tolerated(0.09)	probably_damaging(0.996)	11/91	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	39	0	0	39	92	11	0.106796	103
.	2:147918553	G	ENSG00000121989	ENST00000241416	Transcript	missense_variant	1559	923	308	P/R	cCt/cGt	COSM441200	MODERATE	NA	1	NA	SNV	ACVR2A	HGNC	HGNC:173	protein_coding	YES	1	P1	CCDS33301.1	ENSP00000241416	P27037	NA	UPI0000126673	1	deleterious(0)	probably_damaging(0.978)	7/11	NA	Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,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	NA	NA	NA	NA	NA	33	0	0	33	40	11	0.215686	51
.	2:156327981	A	ENSG00000153234	ENST00000339562	Transcript	missense_variant	1391	1028	343	G/V	gGt/gTt	COSM4814141,COSM441276	MODERATE	NA	-1	NA	SNV	NR4A2	HGNC	HGNC:7981	protein_coding	YES	1	P1	CCDS2201.1	ENSP00000344479	P43354	F1D8N6	UPI0000036A18	1	deleterious(0)	probably_damaging(0.999)	5/8	NA	Gene3D:1.10.565.10,Prints_domain:PR01284,hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF0,Superfamily_domains:SSF48508	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	33	0	0	33	69	12	0.148148	81
.	2:169081762	G	ENSG00000073737	ENST00000432060	Transcript	missense_variant	473	361	121	L/V	Ctg/Gtg	NA	MODERATE	NA	1	NA	SNV	DHRS9	HGNC	HGNC:16888	protein_coding	YES	2	NA	CCDS74600.1	ENSP00000389241	Q9BPW9	NA	UPI0001914BF4	NA	deleterious(0)	probably_damaging(0.992)	2/5	NA	Gene3D:3.40.50.720,Pfam_domain:PF00106,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF606,Superfamily_domains:SSF51735	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	104	0	0	104	126	10	0.073529	136
.	2:171014854	A	ENSG00000198586	ENST00000431350	Transcript	missense_variant	1736	1331	444	S/L	tCa/tTa	NA	MODERATE	NA	-1	NA	SNV	TLK1	HGNC	HGNC:11841	protein_coding	YES	1	P1	CCDS2241.1	ENSP00000411099	Q9UKI8	NA	UPI0000073255	NA	deleterious(0.01)	possibly_damaging(0.83)	13/21	NA	hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF22,Gene3D:3.30.200.20	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	271	0	0	271	260	21	0.074733	281
.	7:48295762	G	ENSG00000179869	ENST00000435803	Transcript	synonymous_variant	9042	9018	3006	L	ctT/ctG	COSM453178,COSM453177	LOW	NA	1	NA	SNV	ABCA13	HGNC	HGNC:14638	protein_coding	YES	1	P1	CCDS47584.1	ENSP00000411096	NA	A0A0A0MT16	UPI00043788D8	NA	NA	NA	21/62	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	154	0	0	154	59	35	0.37234	94
.	3:48681481	G	ENSG00000213672	ENST00000294129	Transcript	missense_variant	1018	898	300	E/Q	Gag/Cag	NA	MODERATE	NA	-1	NA	SNV	NCKIPSD	HGNC	HGNC:15486	protein_coding	YES	1	P3	CCDS2776.1	ENSP00000294129	Q9NZQ3	NA	UPI0000135D86	1	tolerated(0.06)	benign(0.115)	5/13	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR13357	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	35	0	0	35	25	3	0.107143	28
.	3:49033202	G	ENSG00000198218	ENST00000395443	Transcript	missense_variant	2286	1813	605	E/Q	Gag/Cag	NA	MODERATE	NA	-1	NA	SNV	QRICH1	HGNC	HGNC:24713	protein_coding	YES	1	P1	CCDS2787.1	ENSP00000378830	Q2TAL8	A1L3Z9	UPI0000209C85	1	deleterious(0)	possibly_damaging(0.596)	7/10	NA	Pfam_domain:PF12012,hmmpanther:PTHR11697,hmmpanther:PTHR11697: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	60	0	0	60	72	7	0.088608	79
rs756403996	3:49284510	A	ENSG00000114316	ENST00000265560	Transcript	synonymous_variant	2393	2346	782	I	atC/atT	rs756403996,COSM3724115	LOW	NA	-1	NA	SNV	USP4	HGNC	HGNC:12627	protein_coding	YES	1	P1	CCDS2793.1	ENSP00000265560	Q13107	A0A024R2T0	UPI000013D63C	NA	NA	NA	18/22	NA	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF360,Pfam_domain:PF00443,Superfamily_domains:SSF54001	NA	NA	NA	NA	NA	NA	NA	NA	2.033e-05	0	0.0001489	0	0	0	0	0	0	0.0001489	gnomAD_AMR	NA	0,1	0,1	NA	NA	NA	NA	NA	192	0	0	192	187	10	0.050761	197
.	12:109457701	C	ENSG00000110906	ENST00000228495	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	KCTD10	HGNC	HGNC:23236	protein_coding	YES	1	P1	CCDS9128.1	ENSP00000228495	Q9H3F6	A0A024RBJ2	UPI000004DAE1	NA	NA	NA	NA	4/6	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	266	0	0	266	210	43	0.16996	253
.	12:113117105	C	ENSG00000111344	ENST00000546530	Transcript	synonymous_variant	985	699	233	L	ctC/ctG	NA	LOW	NA	-1	NA	SNV	RASAL1	HGNC	HGNC:9873	protein_coding	YES	1	A2	CCDS55889.1	ENSP00000450244	O95294	NA	UPI0001DD37FE	NA	NA	NA	9/22	NA	hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF3,Gene3D:2.60.40.150,Pfam_domain:PF00168,Superfamily_domains:SSF49562	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	63	0	0	63	100	97	0.492386	197
.	12:121318340	C	ENSG00000089053	ENST00000261819	Transcript	synonymous_variant	1952	1830	610	L	ctC/ctG	NA	LOW	NA	-1	NA	SNV	ANAPC5	HGNC	HGNC:15713	protein_coding	YES	1	P1	CCDS9220.1	ENSP00000261819	Q9UJX4	NA	UPI000006DF80	NA	NA	NA	15/17	NA	hmmpanther:PTHR12830,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	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	117	0	0	117	158	12	0.070588	170
.	7:57119968	T	ENSG00000185177	ENST00000331162	Transcript	missense_variant	1718	1447	483	H/N	Cat/Aat	COSM453264	MODERATE	NA	-1	NA	SNV	ZNF479	HGNC	HGNC:23258	protein_coding	YES	1	P1	CCDS43590.1	ENSP00000333776	Q96JC4	NA	UPI000006E615	NA	deleterious(0)	possibly_damaging(0.733)	5/5	NA	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,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	NA	NA	NA	NA	NA	34	0	0	34	68	12	0.15	80
.	2:96711879	C	ENSG00000114988	ENST00000377079	Transcript	synonymous_variant	711	687	229	V	gtC/gtG	NA	LOW	NA	-1	NA	SNV	LMAN2L	HGNC	HGNC:19263	protein_coding	YES	1	A2	CCDS46365.1	ENSP00000366280	Q9H0V9	NA	UPI000044099B	1	NA	NA	6/9	NA	PROSITE_profiles:PS51328,hmmpanther:PTHR12223:SF20,hmmpanther:PTHR12223,Pfam_domain:PF03388,Gene3D:2.60.120.200,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	71	0	0	71	108	6	0.052632	114
.	12:130450248	C	ENSG00000060709	ENST00000261655	Transcript	missense_variant	646	482	161	S/C	tCc/tGc	NA	MODERATE	NA	-1	NA	SNV	RIMBP2	HGNC	HGNC:30339	protein_coding	YES	1	P1	CCDS31925.1	ENSP00000261655	O15034	NA	UPI00001C1F42	NA	deleterious(0.02)	benign(0.237)	6/19	NA	hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18,Superfamily_domains:SSF50044	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	170	0	0	170	253	23	0.083333	276
.	3:130568072	A	ENSG00000206384	ENST00000358511	Transcript	synonymous_variant	1900	1869	623	I	atC/atA	NA	LOW	NA	1	NA	SNV	COL6A6	HGNC	HGNC:27023	protein_coding	YES	5	P1	CCDS46911.1	ENSP00000351310	A6NMZ7	NA	UPI00015B6548	NA	NA	NA	5/36	NA	Gene3D:3.40.50.410,Pfam_domain:PF00092,Prints_domain:PR00453,PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF61,SMART_domains:SM00327,Superfamily_domains:SSF53300	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	48	6	0.111111	54
.	3:133616841	G	ENSG00000163781	ENST00000260810	Transcript	missense_variant	3976	3844	1282	D/H	Gac/Cac	NA	MODERATE	NA	-1	NA	SNV	TOPBP1	HGNC	HGNC:17008	protein_coding	YES	1	P1	CCDS46919.1	ENSP00000260810	Q92547	NA	UPI000020A292	NA	deleterious(0)	possibly_damaging(0.855)	23/28	NA	Gene3D:3.40.50.10190,PDB-ENSP_mappings:3al2.A,PDB-ENSP_mappings:3al3.A,Pfam_domain:PF00533,PROSITE_profiles:PS50172,hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF32,SMART_domains:SM00292,Superfamily_domains:SSF52113	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	117	0	0	117	145	7	0.046053	152
.	3:139352722	C	ENSG00000184432	ENST00000333188	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	COSM445694	MODIFIER	4684	-1	NA	SNV	COPB2	HGNC	HGNC:2232	protein_coding	YES	1	P1	CCDS3108.1	ENSP00000329419	P35606	NA	UPI0000161FB4	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	NA	NA	NA	NA	NA	317	0	0	317	234	77	0.247588	311
rs121913279	3:179234297	G	ENSG00000121879	ENST00000263967	Transcript	missense_variant	3297	3140	1047	H/R	cAt/cGt	rs121913279,COSM94987,COSM94986,COSM776,COSM775,COSM249874	MODERATE	NA	1	NA	SNV	PIK3CA	HGNC	HGNC:8975	protein_coding	YES	2	P1	CCDS43171.1	ENSP00000263967	P42336	NA	UPI000013D494	1	tolerated(0.11)	benign(0.085)	21/21	NA	Gene3D:1.10.1070.11,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.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,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF54,SMART_domains:SM00146,Superfamily_domains:SSF56112	NA	NA	NA	NA	NA	NA	NA	NA	4.083e-06	0	0	0	0	0	9.04e-06	0	0	9.04e-06	gnomAD_NFE	likely_pathogenic,pathogenic	0,1,1,1,1,1	1,1,1,1,1,1	15520168,15608678,17673550,23946963,15016963,22658544,22729222,26266975,26266985,28163917,25710561,28347348	NA	NA	NA	NA	83	0	0	83	78	37	0.321739	115
.	3:195726500	G	ENSG00000176945	ENST00000447234	Transcript	missense_variant	2023	1897	633	K/E	Aag/Gag	COSM446213,COSM1134189	MODERATE	NA	1	NA	SNV	MUC20	HGNC	HGNC:23282	protein_coding	YES	5	P2	CCDS63877.1	ENSP00000414350	Q8N307	NA	UPI000198CC5A	NA	tolerated(0.11)	benign(0.147)	2/4	NA	hmmpanther:PTHR37358,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	123	0	0	123	102	23	0.184	125
.	7:130662976	G	ENSG00000158623	ENST00000425248	Transcript	missense_variant	314	234	78	Q/H	caA/caC	COSM452341	MODERATE	NA	-1	NA	SNV	COPG2	HGNC	HGNC:2237	protein_coding	YES	1	P1	CCDS75662.1	ENSP00000402346	Q9UBF2	A0A140VK12	UPI0000000960	NA	deleterious(0)	probably_damaging(1)	4/24	NA	Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037093,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF4,Superfamily_domains:SSF48371	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	170	0	0	170	132	19	0.125828	151
.	7:134987943	A	ENSG00000146856	ENST00000436302	Transcript	missense_variant	263	10	4	D/N	Gat/Aat	COSM3831941,COSM3831940	MODERATE	NA	1	NA	SNV	AGBL3	HGNC	HGNC:27981	protein_coding	YES	2	P2	CCDS47718.1	ENSP00000388275	Q8NEM8	NA	UPI000192952B	NA	deleterious_low_confidence(0.02)	benign(0.109)	2/17	NA	hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF23	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	191	0	0	191	182	12	0.061856	194
.	7:138917349	C	ENSG00000122778	ENST00000422774	Transcript	synonymous_variant	2326	2277	759	L	ctC/ctG	NA	LOW	NA	-1	NA	SNV	KIAA1549	HGNC	HGNC:22219	protein_coding	YES	1	A2	CCDS56513.1	ENSP00000416040	Q9HCM3	NA	UPI0001837EBD	1	NA	NA	2/20	NA	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4	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	130	0	0	130	165	11	0.0625	176
rs140365489	22:17590214	A	ENSG00000182902	ENST00000327451	Transcript	missense_variant	1464	926	309	R/H	cGc/cAc	rs140365489,COSM444676	MODERATE	NA	1	NA	SNV	SLC25A18	HGNC	HGNC:10988	protein_coding	YES	1	P1	CCDS13744.1	ENSP00000329033	Q9H1K4	A0A024R0W0	UPI00000015FA	NA	tolerated(0.53)	benign(0.001)	11/11	NA	hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF277,Transmembrane_helices:TMhelix	NA	NA	NA	NA	NA	NA	NA	NA	0.0001218	0	0.0002978	0	0.00116	0	0	0	0	0.00116	gnomAD_EAS	NA	0,1	0,1	NA	NA	NA	NA	NA	126	0	0	126	148	21	0.12426	169
.	7:72949912	C	ENSG00000196313	ENST00000395270	Transcript	3_prime_UTR_variant	5483	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	POM121	HGNC	HGNC:19702	protein_coding	YES	1	A2	CCDS59059.1	ENSP00000378687	Q96HA1	NA	UPI000013DA6B	NA	NA	NA	16/16	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	99	0	0	99	132	10	0.070423	142
.	7:99425212	C	ENSG00000106246	ENST00000292478	Transcript	synonymous_variant	1571	1320	440	V	gtC/gtG	NA	LOW	NA	-1	NA	SNV	PTCD1	HGNC	HGNC:22198	protein_coding	YES	1	P1	CCDS34691.1	ENSP00000292478	O75127	A4D273	UPI0000223FFA	NA	NA	NA	6/8	NA	hmmpanther:PTHR24014,hmmpanther:PTHR24014: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	59	0	0	59	62	5	0.074627	67
rs377260340	7:100149024	G	ENSG00000188186	ENST00000341942	Transcript	intron_variant	NA	NA	NA	NA	NA	rs377260340	MODIFIER	NA	1	NA	SNV	LAMTOR4	HGNC	HGNC:33772	protein_coding	YES	1	P1	CCDS34702.1	ENSP00000343118	Q0VGL1	NA	UPI00000527DA	NA	NA	NA	NA	1/3	NA	NA	NA	NA	NA	NA	NA	0.0004539	0	2.614e-05	0.0001978	9.228e-05	0	0	0	0	0	0	0.0004539	AA	NA	NA	NA	NA	NA	NA	NA	NA	135	0	0	135	135	8	0.055944	143
.	7:100175613	T	ENSG00000213420	ENST00000292377	Transcript	missense_variant	775	607	203	L/M	Ctg/Atg	NA	MODERATE	NA	-1	NA	SNV	GPC2	HGNC	HGNC:4450	protein_coding	YES	1	P1	CCDS5689.1	ENSP00000292377	Q8N158	NA	UPI000005340D	NA	deleterious(0)	probably_damaging(0.985)	3/10	NA	Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF24	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	83	0	0	83	75	5	0.0625	80
.	7:100999766	T	ENSG00000205277	ENST00000536621	Transcript	missense_variant	9203	9203	3068	S/F	tCt/tTt	NA	MODERATE	NA	1	NA	SNV	MUC12	HGNC	HGNC:7510	protein_coding	YES	5	P2	CCDS55139.1	ENSP00000441929	Q9UKN1	NA	UPI0001B25898	NA	tolerated(0.08)	unknown(0)	2/12	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	23	0	0	23	91	7	0.071429	98
.	7:101447713	C	ENSG00000160963	ENST00000313669	Transcript	missense_variant	524	311	104	R/T	aGa/aCa	NA	MODERATE	NA	1	NA	SNV	COL26A1	HGNC	HGNC:18038	protein_coding	YES	1	P2	CCDS64739.1	ENSP00000318234	Q96A83	NA	UPI000006F04C	NA	deleterious(0.02)	possibly_damaging(0.579)	3/13	NA	PROSITE_profiles:PS51041,Pfam_domain:PF07546	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	68	25	0.268817	93
.	7:122621490	A	ENSG00000081803	ENST00000449022	Transcript	synonymous_variant	1115	1095	365	F	ttC/ttT	NA	LOW	NA	-1	NA	SNV	CADPS2	HGNC	HGNC:16018	protein_coding	YES	5	A2	CCDS55158.1	ENSP00000398481	Q86UW7	NA	UPI0000668808	NA	NA	NA	5/30	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	138	0	0	138	142	10	0.065789	152
.	7:128801364	G	ENSG00000128596	ENST00000297788	Transcript	synonymous_variant	892	525	175	L	ctC/ctG	NA	LOW	NA	1	NA	SNV	CCDC136	HGNC	HGNC:22225	protein_coding	YES	1	P3	CCDS47704.1	ENSP00000297788	Q96JN2	NA	UPI0000E445DE	NA	NA	NA	4/18	NA	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF26	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	63	0	0	63	57	6	0.095238	63
.	11:61121815	G	ENSG00000110448	ENST00000347785	Transcript	missense_variant	1176	1010	337	S/C	tCc/tGc	NA	MODERATE	NA	1	NA	SNV	CD5	HGNC	HGNC:1685	protein_coding	YES	1	P1	CCDS8000.1	ENSP00000342681	P06127	NA	UPI000013D472	NA	deleterious(0.02)	probably_damaging(0.941)	6/11	NA	PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF306,hmmpanther:PTHR19331,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487,PDB-ENSP_mappings:2ja4.A,PDB-ENSP_mappings:2ott.X,PDB-ENSP_mappings:2ott.Y	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	46	3	0.061224	49
.	11:63166139	A	ENSG00000196600	ENST00000306494	Transcript	missense_variant	1190	1190	397	P/L	cCt/cTt	COSM4825804	MODERATE	NA	-1	NA	SNV	SLC22A25	HGNC	HGNC:32935	protein_coding	YES	1	P1	CCDS31592.1	ENSP00000307443	Q6T423	NA	UPI00001A72A5	NA	tolerated(1)	benign(0.001)	7/9	NA	Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF185,Superfamily_domains:SSF103473,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	NA	NA	NA	NA	NA	144	0	0	144	200	14	0.065421	214
.	2:108755214	C	ENSG00000153201	ENST00000283195	Transcript	missense_variant	2547	2421	807	Q/H	caG/caC	COSM440967	MODERATE	NA	1	NA	SNV	RANBP2	HGNC	HGNC:9848	protein_coding	YES	1	P1	CCDS2079.1	ENSP00000283195	P49792	NA	UPI0000207FB9	1	tolerated(0.07)	benign(0.045)	17/29	NA	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF100	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	215	0	0	215	360	80	0.181818	440
.	11:56253176	G	ENSG00000172489	ENST00000303059	Transcript	missense_variant	977	977	326	E/G	gAa/gGa	NA	MODERATE	NA	1	NA	SNV	OR5T3	HGNC	HGNC:15297	protein_coding	YES	NA	NA	CCDS31524.1	ENSP00000305403	Q8NGG3	NA	UPI0000061E96	NA	deleterious(0)	benign(0.076)	1/1	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	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	25	0	0	25	56	6	0.096774	62
.	11:58507410	G	ENSG00000198283	ENST00000360374	Transcript	missense_variant	696	696	232	K/N	aaG/aaC	NA	MODERATE	NA	-1	NA	SNV	OR5B21	HGNC	HGNC:19616	protein_coding	YES	NA	P1	CCDS31552.1	ENSP00000353537	A6NL26	NA	UPI000015FCAA	NA	deleterious_low_confidence(0)	benign(0.21)	1/1	NA	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF329,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	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	337	0	0	337	341	30	0.080863	371
rs766356612	11:59862707	A	ENSG00000134827	ENST00000257264	Transcript	missense_variant	380	275	92	S/L	tCg/tTg	rs766356612,COSM929131	MODERATE	NA	-1	NA	SNV	TCN1	HGNC	HGNC:11652	protein_coding	YES	1	P1	CCDS7978.1	ENSP00000257264	P20061	NA	UPI000013CF55	NA	deleterious(0)	probably_damaging(0.999)	3/9	NA	hmmpanther:PTHR10559,hmmpanther:PTHR10559:SF13,Pfam_domain:PF01122,PDB-ENSP_mappings:4kki.A,PDB-ENSP_mappings:4kkj.A	NA	NA	NA	NA	NA	NA	NA	NA	2.035e-05	0	2.979e-05	0	0	0	3.591e-05	0	0	3.591e-05	gnomAD_NFE	NA	0,1	0,1	NA	NA	NA	NA	NA	74	0	0	74	97	7	0.067308	104
.	16:1362631	A	ENSG00000090581	ENST00000204679	Transcript	synonymous_variant	673	630	210	R	agG/agA	rs890055206,COSM434663	LOW	NA	1	NA	SNV	GNPTG	HGNC	HGNC:23026	protein_coding	YES	1	P2	CCDS10436.1	ENSP00000204679	Q9UJJ9	NA	UPI0000073F3C	1	NA	NA	9/11	NA	SMART_domains:SM01137	NA	NA	NA	NA	NA	NA	NA	NA	4.061e-06	0	0	0	0	0	8.954e-06	0	0	8.954e-06	gnomAD_NFE	NA	0,1	0,1	NA	NA	NA	NA	NA	92	0	0	92	56	39	0.410526	95
rs751517203	9:4576089	G	ENSG00000106688	ENST00000262352	Transcript	missense_variant	1200	964	322	Q/E	Cag/Gag	rs751517203	MODERATE	NA	1	NA	SNV	SLC1A1	HGNC	HGNC:10939	protein_coding	YES	1	P1	CCDS6452.1	ENSP00000262352	P43005	NA	UPI0000129B16	1	tolerated(0.06)	benign(0.399)	9/12	NA	Superfamily_domains:0053221,Gene3D:2nwlC00,Pfam_domain:PF00375,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF56	NA	NA	NA	NA	NA	NA	NA	NA	4.064e-06	6.537e-05	0	0	0	0	0	0	0	6.537e-05	gnomAD_AFR	NA	NA	NA	NA	NA	NA	NA	NA	83	0	0	83	78	4	0.04878	82
.	9:13168445	T	ENSG00000107186	ENST00000319217	Transcript	missense_variant	3423	3175	1059	E/K	Gaa/Aaa	COSM4814139	MODERATE	NA	-1	NA	SNV	MPDZ	HGNC	HGNC:7208	protein_coding	YES	5	A2	CCDS83342.1	ENSP00000320006	O75970	NA	UPI0000211133	1	tolerated(1)	benign(0.159)	22/47	NA	Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156	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	69	0	0	69	56	10	0.151515	66
.	11:74848196	G	ENSG00000166435	ENST00000340360	Transcript	synonymous_variant	1955	1623	541	L	ctG/ctC	NA	LOW	NA	-1	NA	SNV	XRRA1	HGNC	HGNC:18868	protein_coding	YES	5	P3	CCDS44680.1	ENSP00000339918	Q6P2D8	NA	UPI0001572CC6	NA	NA	NA	15/19	NA	hmmpanther:PTHR22710	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	86	111	0.563452	197
.	11:75089472	C	ENSG00000171561	ENST00000641541	Transcript	missense_variant	1076	242	81	T/S	aCc/aGc	NA	MODERATE	NA	-1	NA	SNV	OR2AT4	HGNC	HGNC:19620	protein_coding	YES	NA	P1	CCDS31639.1	ENSP00000493299	NA	A0A126GWB1	UPI0000061FA5	NA	tolerated(0.19)	benign(0.153)	3/3	NA	Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	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	259	0	0	259	832	22	0.025761	854
.	19:4817147	A	ENSG00000127666	ENST00000248244	Transcript	missense_variant	1461	1231	411	R/W	Cgg/Tgg	COSM4733747	MODERATE	NA	-1	NA	SNV	TICAM1	HGNC	HGNC:18348	protein_coding	YES	1	P1	CCDS12136.1	ENSP00000248244	Q8IUC6	NA	UPI000000D72E	1	deleterious(0)	probably_damaging(0.995)	2/2	NA	PIRSF_domain:PIRSF037744,Superfamily_domains:SSF52200,PDB-ENSP_mappings:2m1x.A	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	63	0	0	63	43	8	0.156863	51
.	1:32275614	T	ENSG00000182866	ENST00000336890	Transcript	synonymous_variant	561	423	141	L	ctC/ctT	COSM5194372,COSM426097,COSM426096	LOW	NA	1	NA	SNV	LCK	HGNC	HGNC:6524	protein_coding	YES	1	P1	CCDS359.1	ENSP00000337825	P06239	A0A0S2Z3Y8	UPI0000151F17	1	NA	NA	6/13	NA	Gene3D:3.30.505.10,Pfam_domain:PF00017,Prints_domain:PR00401,PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF39,SMART_domains:SM00252,Superfamily_domains:SSF50044,Superfamily_domains:SSF55550	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	21	0	0	21	33	10	0.232558	43
.	1:33527215	A	ENSG00000121904	ENST00000373381	Transcript	synonymous_variant	10392	10215	3405	P	ccA/ccT	NA	LOW	NA	-1	NA	SNV	CSMD2	HGNC	HGNC:19290	protein_coding	YES	1	A2	CCDS60082.1	ENSP00000362479	Q7Z408	NA	UPI0000578D0B	NA	NA	NA	65/71	NA	hmmpanther:PTHR19325:SF371,hmmpanther:PTHR19325	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	135	0	0	135	190	40	0.173913	230
.	14:19828004	C	ENSG00000176294	ENST00000641240	Transcript	missense_variant	1082	556	186	K/Q	Aag/Cag	NA	MODERATE	NA	1	NA	SNV	OR4N2	HGNC	HGNC:14742	protein_coding	YES	NA	P1	CCDS32022.1	ENSP00000493327	NA	A0A126GVT2	UPI000004A5DF	NA	tolerated(0.06)	possibly_damaging(0.517)	2/2	NA	Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF439,Superfamily_domains:SSF81321	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	374	0	0	374	619	23	0.035826	642
.	14:21326089	C	ENSG00000092200	ENST00000400017	Transcript	missense_variant	2626	2626	876	D/H	Gat/Cat	NA	MODERATE	NA	1	NA	SNV	RPGRIP1	HGNC	HGNC:13436	protein_coding	YES	1	P2	CCDS45080.1	ENSP00000382895	Q96KN7	NA	UPI0000071B81	1	deleterious(0)	probably_damaging(0.999)	16/24	NA	hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF3,Gene3D:2.60.40.150,Pfam_domain:PF00168,Superfamily_domains:SSF49562	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	123	0	0	123	236	13	0.052209	249
.	1:65636506	A	ENSG00000116678	ENST00000349533	Transcript	missense_variant	3174	2989	997	E/K	Gaa/Aaa	COSM3491881	MODERATE	NA	1	NA	SNV	LEPR	HGNC	HGNC:6554	protein_coding	YES	1	P3	CCDS631.1	ENSP00000330393	P48357	NA	UPI000014C37B	1	tolerated(0.36)	benign(0.007)	20/20	NA	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF109	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	42	0	0	42	68	4	0.055556	72
.	1:92002132	G	ENSG00000137948	ENST00000399546	Transcript	missense_variant	2732	2383	795	Q/E	Caa/Gaa	NA	MODERATE	NA	1	NA	SNV	BRDT	HGNC	HGNC:1105	protein_coding	YES	2	A2	CCDS72820.1	ENSP00000387822	Q58F21	NA	UPI000292A27D	1	tolerated(0.21)	benign(0.007)	16/19	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	310	0	0	310	337	27	0.074176	364
.	1:113758675	C	ENSG00000081019	ENST00000261441	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	NA	MODIFIER	3157	-1	NA	SNV	RSBN1	HGNC	HGNC:25642	protein_coding	YES	2	P1	CCDS862.1	ENSP00000261441	Q5VWQ0	NA	UPI00002263B4	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	NA	32	0	0	32	39	4	0.093023	43
.	6:16295073	G	ENSG00000137198	ENST00000259727	Transcript	missense_variant	1039	925	309	L/V	Ctc/Gtc	NA	MODERATE	NA	1	NA	SNV	GMPR	HGNC	HGNC:4376	protein_coding	YES	1	P1	CCDS4537.1	ENSP00000259727	P36959	NA	UPI000012B8B2	NA	deleterious(0.05)	possibly_damaging(0.778)	9/9	NA	PDB-ENSP_mappings:2ble.A,PDB-ENSP_mappings:2bwg.A,PDB-ENSP_mappings:2bwg.B,PDB-ENSP_mappings:2bwg.C,PDB-ENSP_mappings:2bwg.D,HAMAP:MF_00596,hmmpanther:PTHR11911,hmmpanther:PTHR11911:SF61,Pfam_domain:PF00478,TIGRFAM_domain:TIGR01305,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000235,SMART_domains:SM01240,Superfamily_domains:SSF51412	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	163	0	0	163	191	15	0.072816	206
.	5:35965638	A	ENSG00000145626	ENST00000274278	Transcript	synonymous_variant	949	591	197	F	ttC/ttT	NA	LOW	NA	-1	NA	SNV	UGT3A1	HGNC	HGNC:26625	protein_coding	YES	1	P2	CCDS3913.1	ENSP00000274278	Q6NUS8	A8K444	UPI000003C38B	NA	NA	NA	4/7	NA	Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF208,Superfamily_domains:SSF53756	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	258	0	0	258	449	20	0.042644	469
.	5:39306749	C	ENSG00000113600	ENST00000263408	Transcript	synonymous_variant	1380	1284	428	L	ctC/ctG	NA	LOW	NA	-1	NA	SNV	C9	HGNC	HGNC:1358	protein_coding	YES	1	P1	CCDS3929.1	ENSP00000263408	P02748	NA	UPI0000001065	1	NA	NA	9/11	NA	PDB-ENSP_mappings:5fmw.A,PDB-ENSP_mappings:5fmw.B,PDB-ENSP_mappings:5fmw.C,PDB-ENSP_mappings:5fmw.D,PDB-ENSP_mappings:5fmw.E,PDB-ENSP_mappings:5fmw.F,PDB-ENSP_mappings:5fmw.G,PDB-ENSP_mappings:5fmw.H,PDB-ENSP_mappings:5fmw.I,PDB-ENSP_mappings:5fmw.J,PDB-ENSP_mappings:5fmw.K,PDB-ENSP_mappings:5fmw.L,PDB-ENSP_mappings:5fmw.M,PDB-ENSP_mappings:5fmw.N,PDB-ENSP_mappings:5fmw.O,PDB-ENSP_mappings:5fmw.P,PDB-ENSP_mappings:5fmw.Q,PDB-ENSP_mappings:5fmw.R,PDB-ENSP_mappings:5fmw.S,PDB-ENSP_mappings:5fmw.T,PDB-ENSP_mappings:5fmw.U,PDB-ENSP_mappings:5fmw.V,Pfam_domain:PF01823,PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF362,SMART_domains:SM00457	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	141	0	0	141	214	20	0.08547	234
.	19:44266910	C	ENSG00000159915	ENST00000391958	Transcript	missense_variant	314	187	63	E/Q	Gaa/Caa	NA	MODERATE	NA	1	NA	SNV	ZNF233	HGNC	HGNC:30946	protein_coding	YES	2	P1	CCDS33047.1	ENSP00000375820	A6NK53	NA	UPI000049DEBE	NA	deleterious(0.01)	benign(0.272)	4/5	NA	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,SMART_domains:SM00349	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	264	0	0	264	290	16	0.052288	306
rs778537690	18:56717982	G	ENSG00000091157	ENST00000254442	Transcript	missense_variant	1808	1597	533	I/V	Atc/Gtc	rs778537690,COSM438233	MODERATE	NA	1	NA	SNV	WDR7	HGNC	HGNC:13490	protein_coding	YES	1	P1	CCDS11962.1	ENSP00000254442	Q9Y4E6	NA	UPI000013CE33	NA	tolerated(0.52)	benign(0)	13/28	NA	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF409,Gene3D:2.130.10.10,SMART_domains:SM00320	NA	NA	NA	NA	NA	NA	NA	NA	4.071e-06	6.539e-05	0	0	0	0	0	0	0	6.539e-05	gnomAD_AFR	NA	0,1	0,1	NA	NA	NA	NA	NA	72	0	0	72	167	32	0.160804	199
.	18:58329061	T	ENSG00000049759	ENST00000400345	Transcript	synonymous_variant	1030	747	249	F	ttC/ttT	NA	LOW	NA	1	NA	SNV	NEDD4L	HGNC	HGNC:7728	protein_coding	YES	1	P4	CCDS45872.1	ENSP00000383199	Q96PU5	NA	UPI000058E3AE	1	NA	NA	10/31	NA	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF310	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	85	0	0	85	111	12	0.097561	123
.	11:4603295	G	ENSG00000167333	ENST00000300747	Transcript	missense_variant	762	472	158	E/Q	Gag/Cag	NA	MODERATE	NA	-1	NA	SNV	TRIM68	HGNC	HGNC:21161	protein_coding	YES	1	P1	CCDS31356.1	ENSP00000300747	Q6AZZ1	NA	UPI00001D6F26	NA	deleterious(0.03)	benign(0.066)	3/7	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF89	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	154	0	0	154	128	12	0.085714	140
.	11:4605190	T	ENSG00000167333	ENST00000300747	Transcript	synonymous_variant	605	315	105	L	ctG/ctA	COSM429004	LOW	NA	-1	NA	SNV	TRIM68	HGNC	HGNC:21161	protein_coding	YES	1	P1	CCDS31356.1	ENSP00000300747	Q6AZZ1	NA	UPI00001D6F26	NA	NA	NA	2/7	NA	PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF89,Gene3D:1freA00,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845	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	93	0	0	93	82	15	0.154639	97
.	11:4652706	A	ENSG00000180785	ENST00000396952	Transcript	synonymous_variant	830	180	60	E	gaG/gaA	NA	LOW	NA	1	NA	SNV	OR51E1	HGNC	HGNC:15194	protein_coding	YES	NA	P1	CCDS31358.2	ENSP00000380155	Q8TCB6	A0A126GVF8	UPI000003ACE2	NA	NA	NA	2/2	NA	Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF167,Superfamily_domains:SSF81321	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	324	0	0	324	365	26	0.066496	391
.	4:76115437	C	ENSG00000138750	ENST00000264883	Transcript	missense_variant	1594	1453	485	L/V	Cta/Gta	NA	MODERATE	NA	-1	NA	SNV	NUP54	HGNC	HGNC:17359	protein_coding	YES	1	P3	CCDS3576.1	ENSP00000264883	Q7Z3B4	NA	UPI0000036166	NA	tolerated(0.06)	benign(0.006)	12/12	NA	hmmpanther:PTHR13000	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	156	0	0	156	397	19	0.045673	416
.	4:77773093	C	ENSG00000138767	ENST00000504123	Transcript	missense_variant	519	388	130	L/V	Cta/Gta	NA	MODERATE	NA	-1	NA	SNV	CNOT6L	HGNC	HGNC:18042	protein_coding	YES	2	P1	CCDS68731.1	ENSP00000424896	Q96LI5	NA	UPI0000E445DF	NA	deleterious(0)	possibly_damaging(0.905)	4/12	NA	Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR12121,hmmpanther:PTHR12121:SF35,Superfamily_domains:SSF52058	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	78	0	0	78	247	15	0.057252	262
.	3:52408584	C	ENSG00000163930	ENST00000460680	Transcript	missense_variant	617	145	49	L/V	Ctg/Gtg	COSM446833,COSM4387424	MODERATE	NA	-1	NA	SNV	BAP1	HGNC	HGNC:950	protein_coding	YES	1	P1	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	1	deleterious(0)	probably_damaging(0.999)	4/17	NA	Gene3D:3.40.532.10,Pfam_domain:PF01088,hmmpanther:PTHR10589,hmmpanther:PTHR10589:SF28,Superfamily_domains:SSF54001	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	24	0	0	24	11	6	0.352941	17
rs774470906	17:81220036	A	ENSG00000141577	ENST00000269392	Transcript	synonymous_variant	269	21	7	I	atC/atT	rs774470906	LOW	NA	-1	NA	SNV	CEP131	HGNC	HGNC:29511	protein_coding	YES	1	A2	CCDS82215.1	ENSP00000269392	Q9UPN4	NA	UPI00001C1FC8	NA	NA	NA	2/26	NA	hmmpanther:PTHR31540	NA	NA	NA	NA	NA	NA	NA	NA	3.496e-05	0	0	0	0	0	5.675e-05	0	6.882e-05	6.882e-05	gnomAD_SAS	NA	NA	NA	NA	NA	NA	NA	NA	38	0	0	38	39	5	0.113636	44
.	11:9740292	C	ENSG00000133789	ENST00000318950	Transcript	missense_variant	1403	1300	434	E/Q	Gaa/Caa	NA	MODERATE	NA	1	NA	SNV	SWAP70	HGNC	HGNC:17070	protein_coding	YES	1	P1	CCDS31426.1	ENSP00000315630	Q9UH65	NA	UPI0000073652	NA	tolerated(0.68)	benign(0.079)	9/12	NA	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14383,hmmpanther:PTHR14383: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	121	0	0	121	152	11	0.067485	163
rs762292538	11:83273845	G	ENSG00000137500	ENST00000529689	Transcript	missense_variant	923	488	163	R/T	aGa/aCa	rs762292538	MODERATE	NA	-1	NA	SNV	CCDC90B	HGNC	HGNC:28108	protein_coding	YES	1	P1	CCDS8266.1	ENSP00000434724	Q9GZT6	NA	UPI0000037C9A	NA	deleterious(0.01)	benign(0.025)	6/9	NA	Pfam_domain:PF07798,hmmpanther:PTHR14360,hmmpanther:PTHR14360:SF13	NA	NA	NA	NA	NA	NA	NA	NA	4.17e-06	0	0	0	0	0	0	0	3.315e-05	3.315e-05	gnomAD_SAS	NA	NA	NA	NA	NA	NA	NA	NA	146	0	0	146	255	17	0.0625	272
.	11:72228738	A	ENSG00000165458	ENST00000298229	Transcript	missense_variant	613	409	137	E/K	Gag/Aag	NA	MODERATE	NA	1	NA	SNV	INPPL1	HGNC	HGNC:6080	protein_coding	YES	1	P1	CCDS8213.1	ENSP00000298229	O15357	NA	UPI000013E4AF	1	tolerated(0.13)	possibly_damaging(0.76)	4/28	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR11200:SF15,hmmpanther:PTHR11200	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	57	0	0	57	135	9	0.0625	144
rs556288098	20:34856808	T	ENSG00000131067	ENST00000336431	Transcript	missense_variant,splice_region_variant	1145	1100	367	R/K	aGa/aAa	rs556288098	MODERATE	NA	-1	NA	SNV	GGT7	HGNC	HGNC:4259	protein_coding	YES	1	P1	CCDS13242.2	ENSP00000338964	Q9UJ14	NA	UPI000004C2AB	NA	tolerated(0.47)	benign(0)	8/15	NA	Pfam_domain:PF01019,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF20,Superfamily_domains:SSF56235	2e-04	0	0	0	0	0.001	NA	NA	9.536e-05	0	0	0	0	0	4.584e-05	0	0.000599	0.001	SAS	NA	NA	NA	NA	NA	NA	NA	NA	148	0	0	148	189	15	0.073529	204
.	20:36175707	A	ENSG00000088367	ENST00000338074	Transcript	missense_variant	495	334	112	E/K	Gag/Aag	COSM5194501,COSM443734	MODERATE	NA	1	NA	SNV	EPB41L1	HGNC	HGNC:3378	protein_coding	YES	1	P4	CCDS13271.1	ENSP00000337168	Q9H4G0	NA	UPI0000129AF8	1	deleterious(0.01)	possibly_damaging(0.882)	3/22	NA	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF24,PIRSF_domain:PIRSF002304,Pfam_domain:PF09379,Gene3D:3.10.20.90,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00661	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	221	0	0	221	148	44	0.229167	192
.	20:49941620	T	ENSG00000124226	ENST00000244061	Transcript	missense_variant	265	200	67	C/F	tGt/tTt	NA	MODERATE	NA	1	NA	SNV	RNF114	HGNC	HGNC:13094	protein_coding	YES	1	P1	CCDS33482.1	ENSP00000244061	Q9Y508	NA	UPI0000049FCA	NA	deleterious(0)	probably_damaging(0.989)	2/6	NA	PROSITE_profiles:PS50089,hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF14,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	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	148	0	0	148	119	5	0.040323	124
rs146935829	20:50143571	T	ENSG00000124208	ENST00000341698	Transcript	missense_variant	172	172	58	A/T	Gcc/Acc	rs146935829	MODERATE	NA	-1	NA	SNV	TMEM189-UBE2V1	HGNC	HGNC:33521	protein_coding	YES	2	P1	CCDS13424.1	ENSP00000344166	NA	I3L0A0	UPI0000367052	NA	tolerated_low_confidence(0.33)	benign(0.059)	2/8	NA	hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF146,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg	4e-04	8e-04	0	0	0.001	0	0.0009079	0.0002326	0.0001606	0.001118	5.961e-05	0	0	0	0.0001565	0.0001845	6.518e-05	0.001118	gnomAD_AFR	NA	NA	NA	NA	NA	NA	NA	NA	193	0	0	193	156	26	0.142857	182
.	20:53576395	A	ENSG00000171940	ENST00000371471	Transcript	missense_variant	2795	2369	790	A/V	gCg/gTg	COSM444058,COSM444057	MODERATE	NA	-1	NA	SNV	ZNF217	HGNC	HGNC:13009	protein_coding	YES	5	P1	CCDS13443.1	ENSP00000360526	O75362	NA	UPI000013C323	NA	tolerated(0.13)	benign(0.003)	4/6	NA	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6	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	56	0	0	56	82	15	0.154639	97
.	20:56395576	C	ENSG00000101138	ENST00000217109	Transcript	missense_variant	376	24	8	L/F	ttG/ttC	NA	MODERATE	NA	1	NA	SNV	CSTF1	HGNC	HGNC:2483	protein_coding	YES	1	P1	CCDS13452.1	ENSP00000217109	Q05048	NA	UPI0000000C1E	NA	deleterious(0.01)	benign(0)	2/6	NA	hmmpanther:PTHR22840,Pfam_domain:PF16699	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	79	0	0	79	79	7	0.081395	86
.	8:143321267	T	ENSG00000184428	ENST00000329245	Transcript	synonymous_variant	1115	1080	360	V	gtG/gtA	NA	LOW	NA	-1	NA	SNV	TOP1MT	HGNC	HGNC:29787	protein_coding	YES	1	P1	CCDS6400.1	ENSP00000328835	Q969P6	E5KMK7	UPI000013716D	NA	NA	NA	8/14	NA	Gene3D:3.90.15.10,Pfam_domain:PF01028,hmmpanther:PTHR10290,hmmpanther:PTHR10290:SF1,SMART_domains:SM00435,Superfamily_domains:SSF56349	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	17	0	0	17	29	5	0.147059	34
.	11:3666525	C	ENSG00000129749	ENST00000250699	Transcript	stop_gained	1007	935	312	S/*	tCa/tGa	COSM428959	HIGH	NA	-1	NA	SNV	CHRNA10	HGNC	HGNC:13800	protein_coding	YES	1	P1	CCDS7745.1	ENSP00000250699	Q9GZZ6	NA	UPI0000038CF1	NA	NA	NA	5/5	NA	Gene3D:1.20.120.370,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF566,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,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	NA	NA	NA	NA	NA	131	0	0	131	70	12	0.146341	82
.	20:1242647	T	ENSG00000244588	ENST00000409241	Transcript	missense_variant	978	885	295	K/N	aaG/aaT	NA	MODERATE	NA	1	NA	SNV	RAD21L1	HGNC	HGNC:16271	protein_coding	YES	1	P1	CCDS46568.1	ENSP00000386414	Q9H4I0	NA	UPI000188152B	NA	deleterious(0.01)	benign(0.157)	9/14	NA	hmmpanther:PTHR12585:SF19,hmmpanther:PTHR12585	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	51	1	0.019231	52	108	6	0.052632	114
rs749735863	20:18480415	A	ENSG00000132664	ENST00000377603	Transcript	missense_variant	967	587	196	R/Q	cGa/cAa	rs749735863	MODERATE	NA	1	NA	SNV	POLR3F	HGNC	HGNC:15763	protein_coding	YES	1	P1	CCDS13135.1	ENSP00000366828	Q9H1D9	NA	UPI0000134605	NA	tolerated(0.39)	benign(0.031)	7/9	NA	Pfam_domain:PF05158,PIRSF_domain:PIRSF028763,hmmpanther:PTHR12780	NA	NA	NA	NA	NA	NA	NA	NA	2.443e-05	0	2.984e-05	0	0	0	3.594e-05	0	3.26e-05	3.594e-05	gnomAD_NFE	NA	NA	NA	NA	NA	NA	NA	NA	98	0	0	98	158	10	0.059524	168
.	20:19996758	T	ENSG00000132669	ENST00000255006	Transcript	synonymous_variant	2576	2427	809	L	ctC/ctT	rs989230787	LOW	NA	1	NA	SNV	RIN2	HGNC	HGNC:18750	protein_coding	YES	2	P2	CCDS56182.1	ENSP00000255006	Q8WYP3	NA	UPI00004709D0	1	NA	NA	11/12	NA	hmmpanther:PTHR23101:SF51,hmmpanther:PTHR23101,SMART_domains:SM00167,Superfamily_domains:0044157	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	228	0	0	228	225	13	0.054622	238
.	1:247966248	T	ENSG00000187080	ENST00000641852	Transcript	missense_variant	917	917	306	S/I	aGc/aTc	NA	MODERATE	NA	1	NA	SNV	OR2AK2	HGNC	HGNC:19569	protein_coding	YES	NA	A2	CCDS31102.1	ENSP00000493202	NA	NA	UPI00003B2873	NA	deleterious(0)	probably_damaging(0.968)	1/1	NA	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF299,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237,Transmembrane_helices:TMhelix	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	160	0	0	160	281	12	0.040956	293
.	10:96355227	T	ENSG00000197430	ENST00000371172	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	OPALIN	HGNC	HGNC:20707	protein_coding	YES	1	P1	CCDS7448.1	ENSP00000360214	Q96PE5	NA	UPI0000137063	NA	NA	NA	NA	2/5	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	222	0	0	222	373	16	0.041131	389
.	10:99688737	A	ENSG00000198018	ENST00000370489	Transcript	missense_variant	874	696	232	F/L	ttC/ttA	COSM913776	MODERATE	NA	1	NA	SNV	ENTPD7	HGNC	HGNC:19745	protein_coding	YES	1	P1	CCDS7480.1	ENSP00000359520	Q9NQZ7	NA	UPI0000047E1C	NA	tolerated(0.06)	possibly_damaging(0.685)	7/13	NA	hmmpanther:PTHR11782:SF37,hmmpanther:PTHR11782,Pfam_domain:PF01150	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	327	0	0	327	387	36	0.085106	423
.	10:114444098	G	ENSG00000099204	ENST00000277895	Transcript	missense_variant	1962	1864	622	E/Q	Gag/Cag	NA	MODERATE	NA	-1	NA	SNV	ABLIM1	HGNC	HGNC:78	protein_coding	YES	5	P3	CCDS7590.1	ENSP00000277895	O14639	NA	UPI0000418D06	NA	deleterious(0.03)	benign(0.313)	17/23	NA	Pfam_domain:PF16182,hmmpanther:PTHR24213,hmmpanther:PTHR24213:SF18,Low_complexity_(Seg):seg	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	234	0	0	234	306	21	0.06422	327
.	10:116591122	C	ENSG00000187021	ENST00000528052	Transcript	splice_region_variant,intron_variant	NA	NA	NA	NA	NA	NA	LOW	NA	1	NA	SNV	PNLIPRP1	HGNC	HGNC:9156	protein_coding	YES	2	P2	CCDS7595.1	ENSP00000433933	P54315	NA	UPI000012E6AA	NA	NA	NA	NA	1/12	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	85	0	0	85	77	18	0.189474	95
.	10:119827368	A	ENSG00000198825	ENST00000361976	Transcript	stop_gained	3153	2987	996	S/*	tCa/tAa	NA	HIGH	NA	1	NA	SNV	INPP5F	HGNC	HGNC:17054	protein_coding	YES	1	P1	CCDS7616.1	ENSP00000354519	Q9Y2H2	NA	UPI000006FBCA	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	NA	NA	NA	NA	NA	NA	NA	NA	121	0	0	121	149	12	0.074534	161
.	11:63826980	C	ENSG00000168005	ENST00000294244	Transcript	synonymous_variant	1286	987	329	R	cgG/cgC	NA	LOW	NA	1	NA	SNV	C11orf84	HGNC	HGNC:25115	protein_coding	YES	1	P1	CCDS31594.1	ENSP00000294244	Q9BUA3	NA	UPI00001BDB3C	NA	NA	NA	6/6	NA	hmmpanther:PTHR34589,hmmpanther:PTHR34589: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	57	0	0	57	67	5	0.069444	72
.	19:32923455	G	ENSG00000121289	ENST00000305768	Transcript	missense_variant	1341	1252	418	V/L	Gtt/Ctt	NA	MODERATE	NA	-1	NA	SNV	CEP89	HGNC	HGNC:25907	protein_coding	YES	1	P2	CCDS32987.1	ENSP00000306105	Q96ST8	NA	UPI000020202C	1	deleterious(0.02)	benign(0.009)	12/19	NA	hmmpanther:PTHR36170	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	573	0	0	573	630	27	0.041096	657
.	12:47738228	T	ENSG00000079337	ENST00000449771	Transcript	missense_variant	2635	2546	849	A/E	gCg/gAg	NA	MODERATE	NA	-1	NA	SNV	RAPGEF3	HGNC	HGNC:16629	protein_coding	YES	2	A2	CCDS41775.1	ENSP00000395708	O95398	NA	UPI0000406B36	NA	deleterious(0)	benign(0.027)	26/28	NA	Superfamily_domains:0041591,Gene3D:2ii0A02,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF24,SMART_domains:SM00147,Low_complexity_(Seg):seg	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	37	0	0	37	23	3	0.115385	26
.	12:51342593	T	ENSG00000139610	ENST00000293636	Transcript	missense_variant	349	308	103	S/N	aGc/aAc	COSM431291	MODERATE	NA	-1	NA	SNV	CELA1	HGNC	HGNC:3308	protein_coding	YES	1	P1	CCDS8812.1	ENSP00000293636	Q9UNI1	NA	UPI000013E111	NA	tolerated(0.06)	benign(0.281)	4/8	NA	PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF0,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	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	121	0	0	121	76	18	0.191489	94
.	21:30480208	C	ENSG00000184351	ENST00000390689	Transcript	missense_variant	137	110	37	S/C	tCt/tGt	COSM3681249	MODERATE	NA	-1	NA	SNV	KRTAP19-1	HGNC	HGNC:18936	protein_coding	YES	NA	P1	CCDS13594.1	ENSP00000375108	Q8IUB9	NA	UPI00001A9E54	NA	tolerated_low_confidence(0.18)	benign(0)	1/1	NA	Low_complexity_(Seg):seg,Pfam_domain:PF11759	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	258	0	0	258	447	24	0.050955	471
.	21:31998701	C	ENSG00000142149	ENST00000270112	Transcript	synonymous_variant	2022	1662	554	L	ctG/ctC	NA	LOW	NA	1	NA	SNV	HUNK	HGNC	HGNC:13326	protein_coding	YES	1	P1	CCDS13610.1	ENSP00000270112	P57058	NA	UPI0000035B66	NA	NA	NA	11/11	NA	hmmpanther:PTHR24343:SF188,hmmpanther:PTHR24343	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	109	0	0	109	179	12	0.062827	191
.	21:37478190	C	ENSG00000157540	ENST00000398960	Transcript	missense_variant	292	217	73	D/H	Gat/Cat	COSM5834029,COSM444440,COSM2844937	MODERATE	NA	1	NA	SNV	DYRK1A	HGNC	HGNC:3091	protein_coding	YES	1	P1	CCDS42925.1	ENSP00000381932	Q13627	NA	UPI0000129A31	1	deleterious(0)	benign(0.364)	3/11	NA	hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF28	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	116	0	0	116	172	41	0.192488	213
.	21:37511983	G	ENSG00000157540	ENST00000398960	Transcript	missense_variant	1819	1744	582	H/D	Cat/Gat	NA	MODERATE	NA	1	NA	SNV	DYRK1A	HGNC	HGNC:3091	protein_coding	YES	1	P1	CCDS42925.1	ENSP00000381932	Q13627	NA	UPI0000129A31	1	tolerated_low_confidence(0.18)	possibly_damaging(0.84)	11/11	NA	hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF28	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	81	0	0	81	113	8	0.066116	121
.	21:40347903	A	ENSG00000171587	ENST00000400454	Transcript	missense_variant	1455	977	326	S/I	aGc/aTc	COSM444498	MODERATE	NA	-1	NA	SNV	DSCAM	HGNC	HGNC:3039	protein_coding	YES	1	P1	CCDS42929.1	ENSP00000383303	O60469	NA	UPI00000422DF	NA	tolerated(0.38)	probably_damaging(0.951)	6/33	NA	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	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	195	31	0.137168	226
rs143643812	5:180739997	A	ENSG00000174339	ENST00000307832	Transcript	missense_variant	103	62	21	P/L	cCg/cTg	rs143643812	MODERATE	NA	-1	NA	SNV	OR2Y1	HGNC	HGNC:14837	protein_coding	YES	NA	P1	CCDS34323.1	ENSP00000312403	Q8NGV0	NA	UPI0000041BCE	NA	deleterious(0.01)	possibly_damaging(0.859)	1/1	NA	Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF303,Superfamily_domains:SSF81321	0.001	0.003	0.0014	0	0	0	0.00227	0	0.0002485	0.002687	0.0005661	0	0	0	8.957e-06	0	0	0.003	AFR	NA	NA	NA	NA	NA	NA	NA	NA	138	0	0	138	136	9	0.062069	145
.	22:40861261	C	ENSG00000196236	ENST00000357137	Transcript	intron_variant	NA	NA	NA	NA	NA	COSM445035	MODIFIER	NA	1	NA	SNV	XPNPEP3	HGNC	HGNC:28052	protein_coding	YES	1	P1	CCDS14007.1	ENSP00000349658	Q9NQH7	NA	UPI00000401E0	1	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	1	1	NA	NA	NA	NA	NA	213	0	0	213	161	24	0.12973	185
rs139167631	22:43133351	T	ENSG00000100294	ENST00000290429	Transcript	missense_variant	911	865	289	D/N	Gac/Aac	rs139167631	MODERATE	NA	-1	NA	SNV	MCAT	HGNC	HGNC:29622	protein_coding	YES	1	P1	CCDS33660.1	ENSP00000290429	Q8IVS2	NA	UPI000003B003	NA	tolerated(0.27)	benign(0.003)	4/4	NA	hmmpanther:PTHR10982,Gene3D:3.40.366.10,Pfam_domain:PF00698,SMART_domains:SM00827,Superfamily_domains:SSF52151	NA	NA	NA	NA	NA	NA	0.000227	0.0001163	1.624e-05	6.535e-05	2.978e-05	0	0	0	1.79e-05	0	0	0.000227	AA	NA	NA	NA	NA	NA	NA	NA	NA	63	0	0	63	36	19	0.345455	55
.	22:45293242	T	ENSG00000100373	ENST00000216211	Transcript	synonymous_variant	665	633	211	I	atC/atT	NA	LOW	NA	1	NA	SNV	UPK3A	HGNC	HGNC:12580	protein_coding	YES	1	P3	CCDS14064.1	ENSP00000216211	O75631	NA	UPI0000161B8E	1	NA	NA	5/6	NA	hmmpanther:PTHR15446,hmmpanther:PTHR15446:SF17	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	247	0	0	247	266	10	0.036232	276
rs750340580	22:45386997	G	ENSG00000077935	ENST00000357450	Transcript	missense_variant	1781	1781	594	V/A	gTg/gCg	rs750340580,COSM445113,COSM445112	MODERATE	NA	-1	NA	SNV	SMC1B	HGNC	HGNC:11112	protein_coding	YES	5	P1	CCDS43027.1	ENSP00000350036	Q8NDV3	NA	UPI0004438059	NA	tolerated(0.08)	benign(0.007)	11/25	NA	hmmpanther:PTHR18937:SF147,hmmpanther:PTHR18937,Pfam_domain:PF06470,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,SMART_domains:SM00968,Superfamily_domains:0038317	NA	NA	NA	NA	NA	NA	NA	NA	4.062e-06	0	0	0	5.798e-05	0	0	0	0	5.798e-05	gnomAD_EAS	NA	0,1,1	0,1,1	NA	NA	NA	NA	NA	114	0	0	114	102	38	0.271429	140
.	22:50117205	G	ENSG00000073146	ENST00000262794	Transcript	missense_variant	1391	1308	436	F/L	ttC/ttG	COSM4463840,COSM4463839	MODERATE	NA	1	NA	SNV	MOV10L1	HGNC	HGNC:7201	protein_coding	YES	1	P3	CCDS14084.1	ENSP00000262794	Q9BXT6	NA	UPI00000421FB	NA	deleterious(0)	possibly_damaging(0.556)	9/27	NA	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF331	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	65	0	0	65	60	7	0.104478	67
.	15:33864156	C	ENSG00000169857	ENST00000306730	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	COSM433733	MODIFIER	2071	-1	NA	SNV	AVEN	HGNC	HGNC:13509	protein_coding	YES	1	P1	CCDS10030.1	ENSP00000306822	Q9NQS1	NA	UPI000012666A	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	NA	NA	NA	NA	NA	116	0	0	116	90	20	0.181818	110
.	15:43873959	C	ENSG00000171877	ENST00000417257	Transcript	missense_variant	1816	1639	547	Q/E	Caa/Gaa	COSM433940	MODERATE	NA	-1	NA	SNV	FRMD5	HGNC	HGNC:28214	protein_coding	YES	1	P1	CCDS10107.2	ENSP00000403067	Q7Z6J6	NA	UPI00001A9475	NA	tolerated(1)	benign(0)	14/14	NA	hmmpanther:PTHR23280:SF5,hmmpanther:PTHR23280	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	170	0	0	170	152	18	0.105882	170
.	15:72315894	C	ENSG00000273025	ENST00000569547	Transcript	missense_variant,NMD_transcript_variant	368	296	99	S/C	tCt/tGt	COSM434245	MODERATE	NA	-1	NA	SNV	AC009690.3	Clone_based_ensembl_gene	NA	nonsense_mediated_decay	YES	2	P1	CCDS10242.1	ENSP00000454749	NA	NA	UPI000006F0AA	NA	deleterious(0)	probably_damaging(0.995)	2/15	NA	Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF385,SMART_domains:SM00360,Superfamily_domains:SSF54928	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	74	0	0	74	107	15	0.122951	122
.	15:75012100	T	ENSG00000198794	ENST00000361900	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	SCAMP5	HGNC	HGNC:30386	protein_coding	YES	2	P1	CCDS45306.1	ENSP00000355387	Q8TAC9	A0A0A8K8F5	UPI00000700E5	NA	NA	NA	NA	3/7	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	90	0	0	90	144	13	0.082803	157
.	15:76733279	G	ENSG00000140386	ENST00000563290	Transcript	missense_variant	2068	1972	658	E/Q	Gag/Cag	NA	MODERATE	NA	-1	NA	SNV	SCAPER	HGNC	HGNC:13081	protein_coding	YES	5	A2	CCDS53962.1	ENSP00000454973	Q9BY12	NA	UPI0000E59CC3	1	deleterious(0.01)	possibly_damaging(0.899)	16/32	NA	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31434	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	179	0	0	179	171	14	0.075676	185
.	21:44646677	G	ENSG00000243489	ENST00000334670	Transcript	missense_variant	264	219	73	S/R	agC/agG	NA	MODERATE	NA	1	NA	SNV	KRTAP10-11	HGNC	HGNC:20528	protein_coding	YES	NA	P1	CCDS42962.1	ENSP00000334197	P60412	NA	UPI000040FC94	NA	deleterious(0.01)	benign(0.125)	1/1	NA	hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF19,Low_complexity_(Seg):seg	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	30	0	0	30	112	12	0.096774	124
.	10:62091054	C	ENSG00000150347	ENST00000279873	Transcript	missense_variant	2001	1591	531	E/Q	Gag/Cag	NA	MODERATE	NA	1	NA	SNV	ARID5B	HGNC	HGNC:17362	protein_coding	YES	2	P3	CCDS31208.1	ENSP00000279873	Q14865	NA	UPI00001606F0	NA	tolerated(0.3)	benign(0.195)	10/10	NA	hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF29	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	165	0	0	165	252	19	0.070111	271
.	10:68342053	C	ENSG00000096746	ENST00000265866	Transcript	stop_lost	1205	1040	347	*/S	tGa/tCa	COSM79435	HIGH	NA	1	NA	SNV	HNRNPH3	HGNC	HGNC:5043	protein_coding	YES	1	P1	CCDS7278.1	ENSP00000265866	P31942	A0A024QZK8	UPI0000134539	NA	NA	NA	10/10	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	252	0	0	252	347	22	0.059621	369
rs775043819	10:73046948	T	ENSG00000122884	ENST00000263556	Transcript	missense_variant	1295	1054	352	V/I	Gtc/Atc	rs775043819	MODERATE	NA	-1	NA	SNV	P4HA1	HGNC	HGNC:8546	protein_coding	YES	1	P3	CCDS7320.1	ENSP00000263556	P13674	Q5VSQ6	UPI000002B050	NA	tolerated(1)	benign(0.007)	8/15	NA	hmmpanther:PTHR10869,hmmpanther:PTHR10869:SF76,SMART_domains:SM00702	NA	NA	NA	NA	NA	NA	NA	NA	1.224e-05	0	3.012e-05	0	0	0	1.797e-05	0	0	3.012e-05	gnomAD_AMR	NA	NA	NA	NA	NA	NA	NA	NA	64	0	0	64	124	13	0.094891	137
rs748964058	10:73766380	T	ENSG00000176986	ENST00000339365	Transcript	synonymous_variant	1800	1638	546	R	cgC/cgT	rs748964058,COSM920381	LOW	NA	1	NA	SNV	SEC24C	HGNC	HGNC:10705	protein_coding	YES	5	P1	CCDS7332.1	ENSP00000343405	P53992	A0A024QZM6	UPI000013F621	1	NA	NA	13/24	NA	Gene3D:3.40.50.410,Pfam_domain:PF04811,hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF5,Superfamily_domains:SSF53300	NA	NA	NA	NA	NA	NA	NA	NA	1.228e-05	0	0	0	5.801e-05	0	9.04e-06	0	3.281e-05	5.801e-05	gnomAD_EAS	NA	0,1	0,1	NA	NA	NA	NA	NA	169	0	0	169	177	12	0.063492	189
.	22:33595105	C	ENSG00000133424	ENST00000354992	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	LARGE1	HGNC	HGNC:6511	protein_coding	YES	1	P1	CCDS13912.1	ENSP00000347088	O95461	X5DR28	UPI000012E200	1	NA	NA	NA	6/15	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	57	0	0	57	94	4	0.040816	98
.	22:36298988	G	ENSG00000100345	ENST00000216181	Transcript	missense_variant	3262	3031	1011	E/Q	Gag/Cag	NA	MODERATE	NA	-1	NA	SNV	MYH9	HGNC	HGNC:7579	protein_coding	YES	1	P1	CCDS13927.1	ENSP00000216181	P35579	A0A024R1N1	UPI000012FB80	1	deleterious(0.02)	probably_damaging(0.973)	24/41	NA	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257	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	103	0	0	103	86	5	0.054945	91
.	4:79325350	G	ENSG00000156269	ENST00000286794	Transcript	missense_variant	701	528	176	E/D	gaG/gaC	COSM3606332	MODERATE	NA	-1	NA	SNV	NAA11	HGNC	HGNC:28125	protein_coding	YES	1	P1	CCDS47084.1	ENSP00000286794	Q9BSU3	NA	UPI00000467CA	NA	deleterious(0.04)	benign(0.043)	1/2	NA	hmmpanther:PTHR23091,hmmpanther:PTHR23091:SF242	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	50	0	0	50	305	11	0.03481	316
.	19:40374597	G	ENSG00000160396	ENST00000291823	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	COSM439525,COSM1134085	MODIFIER	4674	-1	NA	SNV	HIPK4	HGNC	HGNC:19007	protein_coding	YES	1	P1	CCDS12555.1	ENSP00000291823	Q8NE63	A0A140VJL1	UPI000006DCD3	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	NA	NA	NA	NA	NA	60	0	0	60	37	8	0.177778	45
.	19:40742726	T	ENSG00000086544	ENST00000263370	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	COSM5833744,COSM439560,COSM1134087	MODIFIER	1866	1	NA	SNV	ITPKC	HGNC	HGNC:14897	protein_coding	YES	1	P1	CCDS12563.1	ENSP00000263370	Q96DU7	A0A024R0N8	UPI000006E1AC	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	1,1,1	1,1,1	NA	NA	NA	NA	NA	58	0	0	58	54	19	0.260274	73
.	19:40745147	A	ENSG00000086544	ENST00000263370	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	NA	MODIFIER	4287	1	NA	SNV	ITPKC	HGNC	HGNC:14897	protein_coding	YES	1	P1	CCDS12563.1	ENSP00000263370	Q96DU7	A0A024R0N8	UPI000006E1AC	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	177	0	0	177	179	11	0.057895	190
.	18:49583730	A	ENSG00000101670	ENST00000261292	Transcript	synonymous_variant	1610	1332	444	L	ctG/ctA	COSM438166	LOW	NA	1	NA	SNV	LIPG	HGNC	HGNC:6623	protein_coding	YES	1	P1	CCDS11938.1	ENSP00000261292	Q9Y5X9	A0A024R2B5	UPI000012E706	NA	NA	NA	8/10	NA	PROSITE_profiles:PS50095,hmmpanther:PTHR11610:SF13,hmmpanther:PTHR11610,PIRSF_domain:PIRSF000865,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723	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	154	40	0.206186	194
.	19:56190906	G	ENSG00000197213	ENST00000586855	Transcript	missense_variant	984	670	224	D/H	Gat/Cat	COSM3539959,COSM3539958	MODERATE	NA	-1	NA	SNV	ZSCAN5B	HGNC	HGNC:34246	protein_coding	YES	5	P1	CCDS46203.1	ENSP00000466072	A6NJL1	NA	UPI000059D7BA	NA	deleterious(0.01)	possibly_damaging(0.596)	4/5	NA	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF164	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	384	0	0	384	785	50	0.05988	835
rs199894785	17:42224856	A	ENSG00000173757	ENST00000293328	Transcript	missense_variant	467	298	100	R/C	Cgc/Tgc	rs199894785	MODERATE	NA	-1	NA	SNV	STAT5B	HGNC	HGNC:11367	protein_coding	YES	1	P1	CCDS11423.1	ENSP00000293328	P51692	NA	UPI000006F059	1	deleterious(0.01)	possibly_damaging(0.69)	4/19	NA	Superfamily_domains:0035539,Gene3D:1bgfA00,Pfam_domain:PF02865,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF39,SMART_domains:SM00964	NA	NA	NA	NA	NA	NA	0	0.0001163	6.907e-05	0	0	0	0	0	0.0001523	0	0	0.0001523	gnomAD_NFE	NA	NA	NA	NA	NA	NA	NA	NA	137	0	0	137	130	23	0.150327	153
.	1:216198547	T	ENSG00000042781	ENST00000307340	Transcript	synonymous_variant	4236	3849	1283	L	ctG/ctA	COSM425318,COSM4231635,COSM4231634	LOW	NA	-1	NA	SNV	USH2A	HGNC	HGNC:12601	protein_coding	YES	1	P1	CCDS31025.1	ENSP00000305941	O75445	NA	UPI000034E5B6	1	NA	NA	18/72	NA	PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060	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	103	0	0	103	215	31	0.126016	246
.	1:223665610	G	ENSG00000203697	ENST00000366872	Transcript	missense_variant	125	37	13	A/P	Gca/Cca	COSM5993440	MODERATE	NA	-1	NA	SNV	CAPN8	HGNC	HGNC:1485	protein_coding	YES	1	P1	CCDS73038.1	ENSP00000355837	A6NHC0	NA	UPI0000157E1A	NA	tolerated(0.2)	possibly_damaging(0.603)	1/21	NA	hmmpanther:PTHR10183:SF52,hmmpanther:PTHR10183,Superfamily_domains:SSF54001	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	55	1	0.017857	56	89	7	0.072917	96
rs753632499	1:224404511	G	ENSG00000162923	ENST00000414423	Transcript	synonymous_variant	1412	1218	406	Y	taT/taC	rs753632499,COSM425425,COSM425424	LOW	NA	-1	NA	SNV	WDR26	HGNC	HGNC:21208	protein_coding	YES	1	P1	CCDS31037.2	ENSP00000408108	Q9H7D7	NA	UPI0000203FB7	1	NA	NA	8/14	NA	Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22838,hmmpanther:PTHR22838:SF0,SMART_domains:SM00320,Superfamily_domains:SSF50978	NA	NA	NA	NA	NA	NA	NA	NA	4.062e-06	0	0	0	0	0	8.957e-06	0	0	8.957e-06	gnomAD_NFE	NA	0,1,1	0,1,1	NA	NA	NA	NA	NA	150	0	0	150	187	61	0.245968	248
.	10:125767633	C	ENSG00000154485	ENST00000368808	Transcript	missense_variant	1309	1309	437	P/A	Ccc/Gcc	NA	MODERATE	NA	-1	NA	SNV	MMP21	HGNC	HGNC:14357	protein_coding	YES	1	P1	CCDS7647.1	ENSP00000357798	Q8N119	NA	UPI000006FDF6	1	deleterious(0.01)	probably_damaging(1)	6/7	NA	PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF147,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,Gene3D:2.110.10.10,SMART_domains:SM00120,Superfamily_domains:SSF50923	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	142	0	0	142	248	13	0.049808	261
rs769852465	10:131166864	T	ENSG00000176769	ENST00000368642	Transcript	missense_variant	964	878	293	R/Q	cGa/cAa	rs769852465,COSM683993,COSM4862189	MODERATE	NA	-1	NA	SNV	TCERG1L	HGNC	HGNC:23533	protein_coding	YES	1	P1	CCDS7662.2	ENSP00000357631	Q5VWI1	NA	UPI00004589C8	NA	deleterious(0.03)	possibly_damaging(0.478)	5/12	NA	hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF5	NA	NA	NA	NA	NA	NA	NA	NA	1.633e-05	0	0	0	5.801e-05	0	2.695e-05	0	0	5.801e-05	gnomAD_EAS	NA	0,1,1	0,1,1	NA	NA	NA	NA	NA	24	0	0	24	59	4	0.063492	63
.	4:99868113	C	ENSG00000070190	ENST00000512369	Transcript	splice_region_variant,intron_variant	NA	NA	NA	NA	NA	NA	LOW	NA	1	NA	SNV	DAPP1	HGNC	HGNC:16500	protein_coding	YES	1	P1	CCDS47112.1	ENSP00000423602	Q9UN19	NA	UPI0000037612	NA	NA	NA	NA	8/8	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	64	0	0	64	79	10	0.11236	89
.	4:101061156	G	ENSG00000138814	ENST00000394854	Transcript	missense_variant	1771	1087	363	E/Q	Gag/Cag	COSM447170	MODERATE	NA	-1	NA	SNV	PPP3CA	HGNC	HGNC:9314	protein_coding	YES	1	P1	CCDS34037.1	ENSP00000378323	Q08209	A0A0S2Z4C6	UPI0000110660	NA	deleterious(0.02)	benign(0.383)	10/14	NA	Gene3D:3.60.21.10,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF261,Superfamily_domains:SSF56300	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	96	39	0.288889	135
rs116519313	4:105276128	C	ENSG00000168769	ENST00000540549	Transcript	missense_variant	6478	5618	1873	I/T	aTt/aCt	rs116519313,COSM41741	MODERATE	NA	1	NA	SNV	TET2	HGNC	HGNC:25941	protein_coding	YES	1	P2	CCDS47120.1	ENSP00000442788	Q6N021	A0A158SIU0	UPI00001D75E4	1	deleterious(0)	probably_damaging(0.999)	11/11	NA	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF3,Pfam_domain:PF12851,SMART_domains:SM01333	2e-04	8e-04	0	0	0	0	NA	NA	1.328e-05	0	0	0	9.777e-05	0	0	0	4.385e-05	8e-04	AFR	NA	0,1	0,1	NA	NA	NA	NA	NA	61	0	0	61	118	6	0.048387	124
.	4:120821207	G	ENSG00000138738	ENST00000264808	Transcript	missense_variant	680	439	147	E/Q	Gaa/Caa	NA	MODERATE	NA	-1	NA	SNV	PRDM5	HGNC	HGNC:9349	protein_coding	YES	1	P3	CCDS3716.1	ENSP00000264808	Q9NQX1	NA	UPI000013D572	1	tolerated(0.37)	benign(0.01)	4/16	NA	PIRSF_domain:PIRSF037162	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	222	0	0	222	256	17	0.062271	273
.	4:125317629	G	ENSG00000196159	ENST00000394329	Transcript	missense_variant	1231	1218	406	H/Q	caC/caG	COSM5416393,COSM5416392,COSM447337,COSM447336	MODERATE	NA	1	NA	SNV	FAT4	HGNC	HGNC:23109	protein_coding	YES	5	P1	CCDS3732.3	ENSP00000377862	Q6V0I7	NA	UPI000155D6E3	1	deleterious(0.01)	probably_damaging(0.996)	1/17	NA	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF43,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	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	40	0	0	40	30	5	0.142857	35
.	17:58280739	A	ENSG00000005381	ENST00000225275	Transcript	missense_variant	197	20	7	S/F	tCt/tTt	NA	MODERATE	NA	-1	NA	SNV	MPO	HGNC	HGNC:7218	protein_coding	YES	1	P1	CCDS11604.1	ENSP00000225275	P05164	NA	UPI0000131634	1	tolerated_low_confidence(0.1)	benign(0)	1/12	NA	Cleavage_site_(Signalp):SignalP-noTM	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	140	0	0	140	277	18	0.061017	295
.	17:58358502	C	ENSG00000108375	ENST00000584437	Transcript	stop_gained	3230	1274	425	S/*	tCa/tGa	NA	HIGH	NA	-1	NA	SNV	RNF43	HGNC	HGNC:18505	protein_coding	YES	1	P1	CCDS11607.1	ENSP00000463069	Q68DV7	NA	UPI000022A469	1	NA	NA	8/9	NA	hmmpanther:PTHR16200,hmmpanther:PTHR16200:SF2	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	1	0.007407	135	167	14	0.077348	181
.	17:63830810	C	ENSG00000087191	ENST00000310144	Transcript	missense_variant,splice_region_variant	862	554	185	G/A	gGa/gCa	NA	MODERATE	NA	1	NA	SNV	PSMC5	HGNC	HGNC:9552	protein_coding	YES	1	P1	CCDS11645.1	ENSP00000310572	P62195	A0A140VJS3	UPI00000219DE	NA	deleterious(0.01)	probably_damaging(0.999)	7/12	NA	Gene3D:3.40.50.300,hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF30,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01242	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	159	0	0	159	260	18	0.064748	278
.	17:69291219	T	ENSG00000154265	ENST00000392676	Transcript	missense_variant	1668	1603	535	D/N	Gat/Aat	NA	MODERATE	NA	-1	NA	SNV	ABCA5	HGNC	HGNC:35	protein_coding	YES	1	P1	CCDS11685.1	ENSP00000376443	Q8WWZ7	NA	UPI000013DD9E	1	tolerated(0.19)	benign(0.152)	12/39	NA	Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF100,SMART_domains:SM00382,Superfamily_domains:SSF52540	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	105	0	0	105	183	9	0.046875	192
.	4:182792484	T	ENSG00000218336	ENST00000511685	Transcript	missense_variant	5935	5812	1938	A/S	Gct/Tct	NA	MODERATE	NA	1	NA	SNV	TENM3	HGNC	HGNC:29944	protein_coding	YES	5	P1	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	1	tolerated(0.43)	benign(0.013)	26/28	NA	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	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	55	0	0	55	46	4	0.08	50
.	1:207471419	G	ENSG00000117322	ENST00000367057	Transcript	splice_region_variant,intron_variant	NA	NA	NA	NA	NA	NA	LOW	NA	1	NA	SNV	CR2	HGNC	HGNC:2336	protein_coding	YES	1	A2	CCDS31007.1	ENSP00000356024	P20023	NA	UPI0000366600	1	NA	NA	NA	8/19	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	104	0	0	104	177	14	0.073298	191
.	11:35432782	C	ENSG00000149090	ENST00000622144	Transcript	missense_variant	1826	1788	596	I/M	atC/atG	COSM428946	MODERATE	NA	-1	NA	SNV	PAMR1	HGNC	HGNC:24554	protein_coding	YES	1	NA	CCDS7898.1	ENSP00000482899	Q6UXH9	NA	UPI000013DB70	NA	deleterious(0)	benign(0.366)	12/12	NA	Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF9,SMART_domains:SM00020,Superfamily_domains:SSF50494	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	133	0	0	133	142	21	0.128834	163
.	17:1776603	C	ENSG00000132386	ENST00000254722	Transcript	missense_variant	1021	858	286	L/F	ttG/ttC	NA	MODERATE	NA	1	NA	SNV	SERPINF1	HGNC	HGNC:8824	protein_coding	YES	1	P1	CCDS11012.1	ENSP00000254722	P36955	A0A140VKF3	UPI000013CE56	1	deleterious(0.04)	probably_damaging(0.985)	7/8	NA	hmmpanther:PTHR11461:SF84,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574,PDB-ENSP_mappings:1imv.A	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	105	0	0	105	110	8	0.067797	118
.	17:5455269	A	ENSG00000005100	ENST00000225296	Transcript	splice_region_variant,synonymous_variant	1239	1038	346	G	ggC/ggT	NA	LOW	NA	-1	NA	SNV	DHX33	HGNC	HGNC:16718	protein_coding	YES	1	P1	CCDS11072.1	ENSP00000225296	Q9H6R0	NA	UPI000013C861	NA	NA	NA	6/12	NA	Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR18934,SMART_domains:SM00490,Superfamily_domains:SSF52540	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	1	0.013514	74	81	7	0.079545	88
.	17:8463379	T	ENSG00000166579	ENST00000334527	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	NDEL1	HGNC	HGNC:17620	protein_coding	YES	1	P1	CCDS11143.1	ENSP00000333982	Q9GZM8	NA	UPI000000D76C	NA	NA	NA	NA	8/8	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	831	0	0	831	786	109	0.121788	895
.	2:195881899	A	ENSG00000118997	ENST00000312428	Transcript	synonymous_variant	5958	5857	1953	L	Ctg/Ttg	NA	LOW	NA	-1	NA	SNV	DNAH7	HGNC	HGNC:18661	protein_coding	YES	1	P1	CCDS42794.1	ENSP00000311273	Q8WXX0	NA	UPI0000141B95	NA	NA	NA	36/65	NA	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12775,Superfamily_domains:SSF52540	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	103	0	0	103	141	11	0.072368	152
.	2:200603291	C	ENSG00000138356	ENST00000374700	Transcript	missense_variant	764	523	175	E/Q	Gaa/Caa	NA	MODERATE	NA	1	NA	SNV	AOX1	HGNC	HGNC:553	protein_coding	YES	1	P1	CCDS33360.1	ENSP00000363832	Q06278	NA	UPI0000071863	NA	tolerated(0.25)	benign(0.131)	7/35	NA	hmmpanther:PTHR11908,hmmpanther:PTHR11908:SF86,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF47741,PDB-ENSP_mappings:4uhw.A,PDB-ENSP_mappings:4uhx.A,PDB-ENSP_mappings:5epg.A	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	382	0	0	382	475	28	0.055666	503
.	2:202726276	A	ENSG00000138439	ENST00000392238	Transcript	synonymous_variant	873	873	291	Q	caG/caA	NA	LOW	NA	1	NA	SNV	FAM117B	HGNC	HGNC:14440	protein_coding	YES	1	P1	CCDS33362.2	ENSP00000376071	Q6P1L5	NA	UPI00015B3B88	NA	NA	NA	4/8	NA	Pfam_domain:PF15388,hmmpanther:PTHR14972,hmmpanther:PTHR14972: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	223	0	0	223	232	15	0.060729	247
rs752244384	6:64591398	A	ENSG00000188107	ENST00000370621	Transcript	missense_variant	4996	4469	1490	S/L	tCg/tTg	rs752244384,COSM451722	MODERATE	NA	-1	NA	SNV	EYS	HGNC	HGNC:21555	protein_coding	YES	1	A2	CCDS78156.1	ENSP00000359655	Q5T1H1	NA	UPI0001AE72B3	1	deleterious(0)	benign(0.124)	26/44	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1.347e-05	0.0001315	0	0	9.766e-05	0	0	0	0	0.0001315	gnomAD_AFR	NA	0,1	0,1	NA	NA	NA	NA	NA	55	0	0	55	60	18	0.230769	78
.	6:75130165	T	ENSG00000111799	ENST00000322507	Transcript	missense_variant	6446	6136	2046	D/N	Gat/Aat	NA	MODERATE	NA	-1	NA	SNV	COL12A1	HGNC	HGNC:2188	protein_coding	YES	1	P2	CCDS43482.1	ENSP00000325146	Q99715	NA	UPI000045890B	1	deleterious(0)	probably_damaging(0.936)	37/66	NA	Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265	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	293	0	0	293	561	66	0.105263	627
.	6:79921779	A	ENSG00000118402	ENST00000369816	Transcript	missense_variant	688	387	129	W/C	tgG/tgT	NA	MODERATE	NA	-1	NA	SNV	ELOVL4	HGNC	HGNC:14415	protein_coding	YES	1	P1	CCDS4992.1	ENSP00000358831	Q9GZR5	NA	UPI0000049DA1	1	deleterious(0)	probably_damaging(1)	4/6	NA	HAMAP:MF_03204,hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF45,Pfam_domain:PF01151,Transmembrane_helices:TMhelix	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	100	0	0	100	209	13	0.058559	222
.	6:87015976	A	ENSG00000168830	ENST00000305344	Transcript	synonymous_variant	1345	642	214	Q	caG/caA	NA	LOW	NA	1	NA	SNV	HTR1E	HGNC	HGNC:5291	protein_coding	YES	1	P1	CCDS5006.1	ENSP00000307766	P28566	NA	UPI000000126D	NA	NA	NA	2/2	NA	Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF33,SMART_domains:SM01381,Superfamily_domains:SSF81321	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	105	0	0	105	222	9	0.038961	231
.	6:89379236	A	ENSG00000025039	ENST00000369415	Transcript	synonymous_variant	1024	747	249	N	aaC/aaT	NA	LOW	NA	-1	NA	SNV	RRAGD	HGNC	HGNC:19903	protein_coding	YES	1	P1	CCDS5022.1	ENSP00000358423	Q9NQL2	NA	UPI000006E549	NA	NA	NA	4/7	NA	Pfam_domain:PF04670,hmmpanther:PTHR11259,hmmpanther:PTHR11259:SF5	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	242	0	0	242	200	27	0.118943	227
.	6:116628112	G	ENSG00000111834	ENST00000229554	Transcript	missense_variant	1542	1405	469	P/A	Ccc/Gcc	COSM450385	MODERATE	NA	1	NA	SNV	RSPH4A	HGNC	HGNC:21558	protein_coding	YES	1	P1	CCDS34521.1	ENSP00000229554	Q5TD94	NA	UPI00001D80C4	1	tolerated(0.09)	benign(0.19)	3/6	NA	Pfam_domain:PF04712,hmmpanther:PTHR13159,hmmpanther:PTHR13159: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	90	0	0	90	219	35	0.137795	254
.	6:118975127	G	ENSG00000111879	ENST00000338891	Transcript	missense_variant	3109	2665	889	E/Q	Gag/Cag	NA	MODERATE	NA	-1	NA	SNV	FAM184A	HGNC	HGNC:20991	protein_coding	YES	1	P1	CCDS43499.1	ENSP00000342604	Q8NB25	NA	UPI0000470B36	NA	tolerated(0.13)	benign(0.221)	13/18	NA	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18870:SF7,hmmpanther:PTHR18870	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	179	14	0.072539	193
.	6:123438987	G	ENSG00000186439	ENST00000334268	Transcript	missense_variant	1266	948	316	K/N	aaG/aaC	NA	MODERATE	NA	-1	NA	SNV	TRDN	HGNC	HGNC:12261	protein_coding	YES	1	P3	CCDS55053.1	ENSP00000333984	Q13061	NA	UPI0000D820CC	1	deleterious_low_confidence(0.01)	possibly_damaging(0.888)	11/41	NA	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0,Low_complexity_(Seg):seg	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	98	0	0	98	146	14	0.0875	160
.	6:132772157	A	ENSG00000146409	ENST00000275227	Transcript	missense_variant	1232	1135	379	L/F	Ctt/Ttt	NA	MODERATE	NA	-1	NA	SNV	SLC18B1	HGNC	HGNC:21573	protein_coding	YES	1	P1	CCDS5163.1	ENSP00000275227	Q6NT16	NA	UPI000013DA50	NA	deleterious(0.03)	benign(0.25)	11/14	NA	Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23506,hmmpanther:PTHR23506:SF2,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix	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	91	8	0.080808	99
.	6:159223576	T	ENSG00000164694	ENST00000297267	Transcript	missense_variant	1015	815	272	S/L	tCa/tTa	COSM450815	MODERATE	NA	1	NA	SNV	FNDC1	HGNC	HGNC:21184	protein_coding	YES	1	P1	CCDS47512.1	ENSP00000297267	Q4ZHG4	NA	UPI0000579B80	NA	deleterious(0.01)	probably_damaging(0.999)	7/23	NA	PROSITE_profiles:PS50853,hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	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	235	0	0	235	292	100	0.255102	392
.	6:170557059	A	ENSG00000008018	ENST00000262193	Transcript	upstream_gene_variant	NA	NA	NA	NA	NA	NA	MODIFIER	3718	-1	NA	SNV	PSMB1	HGNC	HGNC:9537	protein_coding	YES	1	P1	CCDS34577.1	ENSP00000262193	P20618	A0A140VK45	UPI000013259C	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	NA	245	0	0	245	253	13	0.048872	266
.	9:125915721	A	ENSG00000167081	ENST00000373489	Transcript	missense_variant	326	310	104	P/T	Ccc/Acc	NA	MODERATE	NA	1	NA	SNV	PBX3	HGNC	HGNC:8634	protein_coding	YES	1	P3	CCDS6865.1	ENSP00000362588	P40426	NA	UPI00001313B3	NA	tolerated(0.11)	benign(0.033)	3/9	NA	Pfam_domain:PF03792,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF97	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	101	0	0	101	139	12	0.07947	151
.	9:132679162	G	ENSG00000125484	ENST00000372146	Transcript	missense_variant	2107	1543	515	L/V	Ctc/Gtc	NA	MODERATE	NA	1	NA	SNV	GTF3C4	HGNC	HGNC:4667	protein_coding	YES	1	P1	CCDS6953.1	ENSP00000361219	Q9UKN8	NA	UPI000013CBAB	NA	tolerated(0.1)	possibly_damaging(0.714)	2/5	NA	hmmpanther:PTHR15496	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	52	0	0	52	66	9	0.12	75
.	12:55332567	C	ENSG00000205329	ENST00000641364	Transcript	synonymous_variant	1221	867	289	L	ctG/ctC	NA	LOW	NA	1	NA	SNV	OR6C3	HGNC	HGNC:15437	protein_coding	YES	NA	P1	CCDS31819.1	ENSP00000493034	NA	A0A126GW44	UPI000016150E	NA	NA	NA	2/2	NA	hmmpanther:PTHR26454:SF39,hmmpanther:PTHR26454,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245,Transmembrane_helices:TMhelix	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	87	0	0	87	128	11	0.079137	139
.	1:12022377	A	ENSG00000116691	ENST00000235332	Transcript	missense_variant	566	397	133	D/N	Gat/Aat	NA	MODERATE	NA	1	NA	SNV	MIIP	HGNC	HGNC:25715	protein_coding	YES	1	P1	CCDS143.1	ENSP00000235332	Q5JXC2	NA	UPI000013C9CB	NA	tolerated(0.19)	benign(0.342)	3/10	NA	hmmpanther:PTHR34831,Pfam_domain:PF15734	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	40	0	0	40	55	5	0.083333	60
.	6:33690104	G	ENSG00000096433	ENST00000374316	Transcript	missense_variant	7998	6938	2313	A/G	gCc/gGc	NA	MODERATE	NA	1	NA	SNV	ITPR3	HGNC	HGNC:6182	protein_coding	YES	5	P1	CCDS4783.1	ENSP00000363435	Q14573	NA	UPI000013CB74	1	deleterious(0.05)	probably_damaging(0.998)	52/59	NA	Pfam_domain:PF00520,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51	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	79	0	0	79	86	4	0.044444	90
.	6:42263541	C	ENSG00000124496	ENST00000541110	Transcript	missense_variant	2232	1663	555	Q/E	Cag/Gag	NA	MODERATE	NA	-1	NA	SNV	TRERF1	HGNC	HGNC:18273	protein_coding	YES	1	A2	CCDS75455.1	ENSP00000439689	NA	Q05GC8	UPI000022CBC8	NA	tolerated_low_confidence(0.26)	benign(0.035)	8/18	NA	hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF19,Low_complexity_(Seg):seg	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	66	0	0	66	105	7	0.0625	112
.	6:42603630	C	ENSG00000024048	ENST00000372899	Transcript	missense_variant	832	574	192	Y/H	Tat/Cat	COSM5194550,COSM451471	MODERATE	NA	1	NA	SNV	UBR2	HGNC	HGNC:21289	protein_coding	YES	1	P2	CCDS4870.1	ENSP00000361990	Q8IWV8	NA	UPI0000074466	NA	tolerated(0.51)	benign(0.017)	5/47	NA	hmmpanther:PTHR21497:SF28,hmmpanther:PTHR21497	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	117	0	0	117	145	18	0.110429	163
.	6:43338250	G	ENSG00000171467	ENST00000361428	Transcript	synonymous_variant	5826	5748	1916	V	gtT/gtC	NA	LOW	NA	-1	NA	SNV	ZNF318	HGNC	HGNC:13578	protein_coding	YES	1	P1	CCDS4895.2	ENSP00000354964	Q5VUA4	NA	UPI000049E044	NA	NA	NA	10/10	NA	hmmpanther:PTHR15577	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	178	0	0	178	269	2	0.00738	271
rs759175642	6:43628991	G	ENSG00000172432	ENST00000307126	Transcript	missense_variant	172	172	58	Y/H	Tat/Cat	rs759175642	MODERATE	NA	-1	NA	SNV	GTPBP2	HGNC	HGNC:4670	protein_coding	YES	1	P1	CCDS4903.1	ENSP00000303997	Q9BX10	A0A024RD30	UPI0000070C45	NA	tolerated(0.43)	possibly_damaging(0.543)	1/12	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	4.111e-06	0	0	0	0	0	9.175e-06	0	0	9.175e-06	gnomAD_NFE	NA	NA	NA	NA	NA	NA	NA	NA	21	0	0	21	62	3	0.046154	65
.	2:97545745	T	ENSG00000196912	ENST00000258459	Transcript	splice_region_variant,intron_variant	NA	NA	NA	NA	NA	NA	LOW	NA	-1	NA	SNV	ANKRD36B	HGNC	HGNC:29333	protein_coding	YES	5	P1	CCDS74543.1	ENSP00000481149	Q8N2N9	NA	UPI000155D57B	NA	NA	NA	NA	23/43	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	70	0	0	70	127	11	0.07971	138
.	11:123754145	A	ENSG00000221931	ENST00000327930	Transcript	missense_variant	401	374	125	C/F	tGc/tTc	COSM428588	MODERATE	NA	-1	NA	SNV	OR6X1	HGNC	HGNC:14737	protein_coding	YES	NA	P1	CCDS31695.1	ENSP00000333724	Q8NH79	A0A126GVM0	UPI000004B1D5	NA	deleterious(0)	probably_damaging(0.998)	1/1	NA	Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF30,Superfamily_domains:SSF81321	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	432	0	0	432	273	70	0.204082	343
.	5:5461231	C	ENSG00000164151	ENST00000296564	Transcript	missense_variant	2119	1897	633	S/P	Tct/Cct	COSM6208753,COSM6208752	MODERATE	NA	1	NA	SNV	ICE1	HGNC	HGNC:29154	protein_coding	YES	1	P1	CCDS47187.1	ENSP00000296564	Q9Y2F5	NA	UPI00015542F9	NA	tolerated(0.14)	benign(0.043)	13/19	NA	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF4,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	52	0	0	52	89	5	0.053191	94
.	5:13840976	A	ENSG00000039139	ENST00000265104	Transcript	missense_variant	5744	5639	1880	S/F	tCc/tTc	COSM232181	MODERATE	NA	-1	NA	SNV	DNAH5	HGNC	HGNC:2950	protein_coding	YES	1	P1	CCDS3882.1	ENSP00000265104	Q8TE73	NA	UPI0000110101	1	deleterious(0.01)	possibly_damaging(0.497)	34/79	NA	hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676	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	279	12	0.041237	291
.	12:11752539	T	ENSG00000139083	ENST00000396373	Transcript	synonymous_variant	397	123	41	L	ctC/ctT	NA	LOW	NA	1	NA	SNV	ETV6	HGNC	HGNC:3495	protein_coding	YES	1	P1	CCDS8643.1	ENSP00000379658	P41212	A0A0S2Z3C9	UPI000000DA45	1	NA	NA	2/8	NA	PROSITE_profiles:PS51433,hmmpanther:PTHR11849:SF19,hmmpanther:PTHR11849,Pfam_domain:PF02198,SMART_domains:SM00251,Superfamily_domains:SSF47769	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	116	0	0	116	96	4	0.04	100
.	1:237503500	T	ENSG00000198626	ENST00000366574	Transcript	missense_variant	2925	2608	870	S/C	Agc/Tgc	NA	MODERATE	NA	1	NA	SNV	RYR2	HGNC	HGNC:10484	protein_coding	YES	1	P2	CCDS55691.1	ENSP00000355533	Q92736	NA	UPI0000DD0308	1	deleterious(0.01)	probably_damaging(0.915)	22/105	NA	Pfam_domain:PF02026,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	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	66	0	0	66	109	9	0.076271	118
.	1:244572677	G	ENSG00000179397	ENST00000366534	Transcript	missense_variant	1909	1855	619	L/V	Ctg/Gtg	COSM425809,COSM1133906	MODERATE	NA	1	NA	SNV	CATSPERE	HGNC	HGNC:28491	protein_coding	YES	2	P3	CCDS44340.1	ENSP00000355492	Q5SY80	NA	UPI00004701CD	NA	tolerated(0.1)	possibly_damaging(0.509)	11/22	NA	Pfam_domain:PF15020,hmmpanther:PTHR33722,hmmpanther:PTHR33722:SF3	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	26	0	0	26	67	13	0.1625	80
.	9:76706000	A	ENSG00000106772	ENST00000376718	Transcript	missense_variant	6398	6274	2092	H/Y	Cac/Tac	NA	MODERATE	NA	-1	NA	SNV	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	5	P3	CCDS47982.1	ENSP00000365908	Q8WUY3	NA	UPI0001612CC0	NA	deleterious(0.02)	benign(0.082)	8/19	NA	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	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	83	0	0	83	109	10	0.084034	119
.	9:81991554	G	ENSG00000214929	ENST00000344803	Transcript	missense_variant	1131	1084	362	H/D	Cat/Gat	NA	MODERATE	NA	1	NA	SNV	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	2	P1	CCDS47986.1	ENSP00000341988	Q6ZQQ2	NA	UPI00001C10A6	NA	deleterious(0.03)	benign(0.159)	4/4	NA	hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859	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	342	0	0	342	574	24	0.040134	598
.	9:93529478	T	ENSG00000048828	ENST00000277165	Transcript	synonymous_variant	1826	1632	544	T	acC/acT	NA	LOW	NA	1	NA	SNV	FAM120A	HGNC	HGNC:13247	protein_coding	YES	1	P1	CCDS6706.1	ENSP00000277165	Q9NZB2	NA	UPI0000211A83	NA	NA	NA	9/18	NA	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF14	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	71	0	0	71	134	10	0.069444	144
.	9:112864303	C	ENSG00000148158	ENST00000374232	Transcript	synonymous_variant	1322	1158	386	L	ctG/ctC	NA	LOW	NA	1	NA	SNV	SNX30	HGNC	HGNC:23685	protein_coding	YES	5	P1	CCDS43865.1	ENSP00000363349	Q5VWJ9	NA	UPI0000457796	NA	NA	NA	8/9	NA	hmmpanther:PTHR10555:SF123,hmmpanther:PTHR10555,Pfam_domain:PF03114,Superfamily_domains:SSF103657	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	212	0	0	212	202	10	0.04717	212
.	9:121782399	C	ENSG00000136848	ENST00000259371	Transcript	missense_variant,splice_region_variant	3474	3387	1129	E/D	gaG/gaC	NA	MODERATE	NA	1	NA	SNV	DAB2IP	HGNC	HGNC:17294	protein_coding	YES	5	A2	CCDS6833.2	ENSP00000259371	Q5VWQ8	NA	UPI0000D77E70	NA	tolerated(0.1)	benign(0.159)	16/17	NA	hmmpanther:PTHR10194:SF26,hmmpanther:PTHR10194,Pfam_domain:PF12004	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	241	0	0	241	213	11	0.049107	224
.	14:24819145	G	ENSG00000168952	ENST00000323944	Transcript	missense_variant	953	501	167	Q/H	caG/caC	NA	MODERATE	NA	-1	NA	SNV	STXBP6	HGNC	HGNC:19666	protein_coding	YES	1	P1	CCDS9634.1	ENSP00000324302	Q8NFX7	NA	UPI000006DD7D	NA	tolerated(0.05)	benign(0.044)	5/6	NA	PROSITE_profiles:PS50892,hmmpanther:PTHR16092,Gene3D:1.20.5.110,Pfam_domain:PF00957,Superfamily_domains:SSF58038	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	93	0	0	93	203	13	0.060185	216
.	10:86957412	G	ENSG00000173269	ENST00000372027	Transcript	missense_variant	452	130	44	E/Q	Gag/Cag	NA	MODERATE	NA	-1	NA	SNV	MMRN2	HGNC	HGNC:19888	protein_coding	YES	1	P1	CCDS7379.1	ENSP00000361097	Q9H8L6	NA	UPI000013F046	NA	tolerated(0.08)	benign(0.075)	1/7	NA	hmmpanther:PTHR15427:SF6,hmmpanther:PTHR15427	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	21	0	0	21	41	3	0.068182	44
.	18:2567037	G	ENSG00000101574	ENST00000574538	Transcript	synonymous_variant	956	180	60	A	gcT/gcC	COSM438012	LOW	NA	-1	NA	SNV	METTL4	HGNC	HGNC:24726	protein_coding	YES	1	P1	CCDS11826.1	ENSP00000458290	Q8N3J2	NA	UPI000020191B	NA	NA	NA	2/9	NA	hmmpanther:PTHR12829	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	73	0	0	73	88	14	0.137255	102
.	18:2920358	G	ENSG00000101577	ENST00000261596	Transcript	missense_variant	2865	2626	876	E/Q	Gag/Cag	NA	MODERATE	NA	-1	NA	SNV	LPIN2	HGNC	HGNC:14450	protein_coding	YES	1	P1	CCDS11829.1	ENSP00000261596	Q92539	NA	UPI000012E865	1	deleterious(0)	probably_damaging(0.914)	20/20	NA	hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11	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	41	3	0.068182	44
rs756881165	18:10758049	C	ENSG00000154864	ENST00000503781	Transcript	synonymous_variant	3768	3768	1256	G	ggT/ggG	rs756881165	LOW	NA	-1	NA	SNV	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	1	P2	CCDS11850.2	ENSP00000421377	Q9H5I5	NA	UPI0001B3CB29	1	NA	NA	25/52	NA	hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24	NA	NA	NA	NA	NA	NA	NA	NA	0.004238	0.01888	0.0001258	0.001585	0.0005986	0.003467	0.006978	0.002363	0	0.01888	gnomAD_AFR	NA	NA	NA	NA	NA	NA	NA	NA	52	0	0	52	43	3	0.065217	46
.	16:57246063	T	ENSG00000102931	ENST00000219204	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	ARL2BP	HGNC	HGNC:17146	protein_coding	YES	1	P1	CCDS10776.1	ENSP00000219204	Q9Y2Y0	A0A024R6U9	UPI00000372F1	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	201	0	0	201	100	46	0.315068	146
.	16:57460642	C	ENSG00000088682	ENST00000262507	Transcript	3_prime_UTR_variant	1044	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	COQ9	HGNC	HGNC:25302	protein_coding	YES	1	P1	CCDS32459.1	ENSP00000262507	O75208	A0A024R6U3	UPI0000070ECA	1	NA	NA	9/9	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	NA	160	0	0	160	136	5	0.035461	141
.	17:36104625	T	ENSG00000275302	ENST00000615863	Transcript	synonymous_variant	490	174	58	C	tgC/tgT	NA	LOW	NA	1	NA	SNV	CCL4	HGNC	HGNC:10630	protein_coding	YES	1	P1	CCDS11308.1	ENSP00000482259	P13236	NA	UPI00001362CC	NA	NA	NA	2/3	NA	PDB-ENSP_mappings:1hum.A,PDB-ENSP_mappings:1hum.B,PDB-ENSP_mappings:1hun.A,PDB-ENSP_mappings:1hun.B,PDB-ENSP_mappings:1je4.A,Gene3D:2.40.50.40,PDB-ENSP_mappings:2ffk.B,PDB-ENSP_mappings:2fin.B,PDB-ENSP_mappings:2x6l.A,PDB-ENSP_mappings:2x6l.B,PDB-ENSP_mappings:2x6l.C,PDB-ENSP_mappings:2x6l.D,PDB-ENSP_mappings:2x6l.E,PDB-ENSP_mappings:3tn2.A,PDB-ENSP_mappings:4ral.D,PDB-ENSP_mappings:4ral.E,Pfam_domain:PF00048,PROSITE_patterns:PS00472,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF103,SMART_domains:SM00199,Superfamily_domains:SSF54117	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	218	0	0	218	239	15	0.059055	254
.	8:47864731	C	ENSG00000253729	ENST00000314191	Transcript	missense_variant	5453	5396	1799	E/G	gAa/gGa	NA	MODERATE	NA	-1	NA	SNV	PRKDC	HGNC	HGNC:9413	protein_coding	YES	1	P4	CCDS75735.1	ENSP00000313420	P78527	NA	UPI0000013593	1	tolerated(0.13)	benign(0.118)	41/86	NA	Superfamily_domains:SSF48371	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	48	0	0	48	187	7	0.036082	194
.	8:47864732	A	ENSG00000253729	ENST00000314191	Transcript	stop_gained	5452	5395	1799	E/*	Gaa/Taa	NA	HIGH	NA	-1	NA	SNV	PRKDC	HGNC	HGNC:9413	protein_coding	YES	1	P4	CCDS75735.1	ENSP00000313420	P78527	NA	UPI0000013593	1	NA	NA	41/86	NA	Superfamily_domains:SSF48371	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	48	0	0	48	183	7	0.036842	190
.	9:137243500	A	ENSG00000188229	ENST00000340384	Transcript	missense_variant	1430	1282	428	A/T	Gcc/Acc	COSM455650	MODERATE	NA	1	NA	SNV	TUBB4B	HGNC	HGNC:20771	protein_coding	YES	1	P1	CCDS7039.1	ENSP00000341289	P68371	NA	UPI000000D966	NA	deleterious_low_confidence(0.02)	benign(0)	4/4	NA	Gene3D:1.10.287.600,Coiled-coils_(Ncoils):Coil,Prints_domain:PR01163,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF93,Superfamily_domains:SSF55307,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	10	0	0	10	12	5	0.294118	17
.	16:20796387	G	ENSG00000005187	ENST00000289416	Transcript	synonymous_variant	2047	1572	524	V	gtC/gtG	NA	LOW	NA	1	NA	SNV	ACSM3	HGNC	HGNC:10522	protein_coding	YES	1	P1	CCDS10589.1	ENSP00000289416	Q53FZ2	NA	UPI0000251DAA	NA	NA	NA	13/14	NA	hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF105,Pfam_domain:PF13193,Gene3D:3.30.300.30,Superfamily_domains:SSF56801	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	57	0	0	57	63	4	0.059701	67
.	19:10986371	T	ENSG00000127616	ENST00000429416	Transcript	missense_variant	819	538	180	L/F	Ctc/Ttc	COSM438516,COSM1134074	MODERATE	NA	1	NA	SNV	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	2	NA	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	1	deleterious(0.02)	probably_damaging(0.992)	5/36	NA	PROSITE_profiles:PS51666,hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799,Pfam_domain:PF08880,SMART_domains:SM00951	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	27	0	0	27	24	6	0.2	30
.	13:79371088	C	ENSG00000139746	ENST00000622611	Transcript	stop_gained	938	491	164	S/*	tCa/tGa	NA	HIGH	NA	-1	NA	SNV	RBM26	HGNC	HGNC:20327	protein_coding	YES	2	NA	CCDS73591.1	ENSP00000483408	NA	A0A087X0H9	UPI00016378C8	NA	NA	NA	5/22	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR14398:SF2,hmmpanther:PTHR14398	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	103	0	0	103	125	8	0.06015	133
.	13:91693713	A	ENSG00000179399	ENST00000377067	Transcript	missense_variant	1292	852	284	H/Q	caC/caA	COSM432608	MODERATE	NA	1	NA	SNV	GPC5	HGNC	HGNC:4453	protein_coding	YES	1	P1	CCDS9468.1	ENSP00000366267	P78333	NA	UPI0000001C85	NA	tolerated(0.13)	benign(0.001)	3/8	NA	Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF12	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	71	0	0	71	78	13	0.142857	91
rs764883197	13:110465539	T	ENSG00000134871	ENST00000360467	Transcript	synonymous_variant	2217	1911	637	D	gaC/gaT	rs764883197,COSM945363	LOW	NA	1	NA	SNV	COL4A2	HGNC	HGNC:2203	protein_coding	YES	5	P1	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	1	NA	NA	25/48	NA	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF588,Low_complexity_(Seg):seg	NA	NA	NA	NA	NA	NA	NA	NA	2.051e-05	0	0	0	0	0	4.575e-05	0	0	4.575e-05	gnomAD_NFE	NA	0,1	0,1	NA	NA	NA	NA	NA	16	0	0	16	52	7	0.118644	59
.	16:15036183	T	ENSG00000157045	ENST00000287706	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	COSM5496273	MODIFIER	1670	-1	NA	SNV	NTAN1	HGNC	HGNC:29909	protein_coding	YES	1	P1	CCDS10558.1	ENSP00000287706	Q96AB6	NA	UPI0000071024	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	NA	NA	NA	NA	NA	66	0	0	66	95	7	0.068627	102
