#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
.	16:87413116	A	ENSG00000140948	ENST00000268616	Transcript	synonymous_variant	1490	1272	424	S	tcC/tcT	COSM435889	LOW	NA	-1	NA	SNV	ZCCHC14	HGNC	HGNC:24134	protein_coding	YES	1	P1	CCDS10961.1	ENSP00000268616	Q8WYQ9	NA	UPI00000705C4	NA	NA	NA	11/13	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF16	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	11	0	0	11	29	22	0.431373	51
.	1:159535654	T	ENSG00000184155	ENST00000334857	Transcript	missense_variant	354	354	118	M/I	atG/atA	COSM424288	MODERATE	NA	-1	NA	SNV	OR10J5	HGNC	HGNC:14993	protein_coding	YES	NA	P1	CCDS30910.1	ENSP00000334441	Q8NHC4	A0A126GV70	UPI0000041E4E	NA	deleterious(0.01)	possibly_damaging(0.459)	1/1	NA	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF115,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,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	1	1	NA	NA	NA	NA	NA	50	0	0	50	105	41	0.280822	146
.	7:79007189	T	ENSG00000187391	ENST00000354212	Transcript	missense_variant	573	319	107	D/N	Gac/Aac	COSM453436,COSM351650	MODERATE	NA	-1	NA	SNV	MAGI2	HGNC	HGNC:18957	protein_coding	YES	1	P3	CCDS5594.1	ENSP00000346151	Q86UL8	NA	UPI00001615D2	1	deleterious(0)	probably_damaging(0.996)	2/22	NA	hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF27,SMART_domains:SM00072	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	90	0	0	90	126	43	0.254438	169
.	7:122388615	A	ENSG00000081803	ENST00000449022	Transcript	missense_variant	3152	3132	1044	M/I	atG/atT	NA	MODERATE	NA	-1	NA	SNV	CADPS2	HGNC	HGNC:16018	protein_coding	YES	5	A2	CCDS55158.1	ENSP00000398481	Q86UW7	NA	UPI0000668808	NA	deleterious(0.02)	probably_damaging(0.943)	23/30	NA	PROSITE_profiles:PS51258	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	74	0	0	74	200	10	0.047619	210
.	X:47169471	T	ENSG00000182872	ENST00000329236	Transcript	synonymous_variant	369	369	123	D	gaC/gaT	rs374011478	LOW	NA	1	NA	SNV	RBM10	HGNC	HGNC:9896	protein_coding	YES	1	A2	CCDS75969.1	ENSP00000328848	NA	A0A0A0MR66	UPI0000211F0E	1	NA	NA	3/24	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF4	NA	NA	NA	NA	NA	NA	0	0.0001486	5.772e-06	8.427e-05	0	0	0	0	0	0	0	0.0001486	EA	NA	NA	NA	NA	NA	NA	NA	NA	14	0	0	14	39	17	0.303571	56
rs746206047	17:44668147	C	ENSG00000180336	ENST00000409122	Transcript	missense_variant	2378	2236	746	T/P	Acc/Ccc	rs746206047	MODERATE	NA	1	NA	SNV	MEIOC	HGNC	HGNC:26670	protein_coding	YES	5	P1	CCDS45703.2	ENSP00000386452	A2RUB1	NA	UPI0001881A86	NA	tolerated(0.17)	benign(0.018)	5/8	NA	hmmpanther:PTHR33861,hmmpanther:PTHR33861:SF3	NA	NA	NA	NA	NA	NA	NA	NA	0.0003526	0	2.987e-05	0	0	0.0002259	0.0007187	0.0001832	0	0.0007187	gnomAD_NFE	NA	NA	NA	NA	NA	NA	NA	NA	71	1	0.013889	72	149	7	0.044872	156
.	17:59881093	A	ENSG00000108423	ENST00000325752	Transcript	missense_variant	626	338	113	P/L	cCc/cTc	COSM437044,COSM216400	MODERATE	NA	-1	NA	SNV	TUBD1	HGNC	HGNC:16811	protein_coding	YES	5	P1	CCDS11620.1	ENSP00000320797	Q9UJT1	NA	UPI000013D7FA	NA	deleterious(0)	possibly_damaging(0.463)	4/9	NA	hmmpanther:PTHR11588:SF4,hmmpanther:PTHR11588,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01224,Prints_domain:PR01161	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	66	0	0	66	121	34	0.219355	155
.	16:9829612	T	ENSG00000183454	ENST00000396573	Transcript	stop_gained	2128	1818	606	W/*	tgG/tgA	COSM435959	HIGH	NA	-1	NA	SNV	GRIN2A	HGNC	HGNC:4585	protein_coding	YES	1	P1	CCDS10539.1	ENSP00000379818	Q12879	Q547U9	UPI000000D7AB	1	NA	NA	10/14	NA	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Prints_domain:PR00177	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	48	0	0	48	69	29	0.295918	98
.	2:137667852	G	ENSG00000144229	ENST00000409968	Transcript	missense_variant	4908	4730	1577	Y/C	tAc/tGc	COSM441178,COSM1481977	MODERATE	NA	1	NA	SNV	THSD7B	HGNC	HGNC:29348	protein_coding	YES	5	P2	CCDS82515.1	ENSP00000387145	NA	E7EM75	UPI00018816B7	NA	deleterious(0)	probably_damaging(0.982)	27/28	NA	hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,Transmembrane_helices:TMhelix	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	391	0	0	391	243	50	0.170648	293
.	3:150583242	A	ENSG00000144895	ENST00000460851	Transcript	missense_variant	1778	1669	557	G/R	Gga/Aga	COSM445797,COSM445796	MODERATE	NA	1	NA	SNV	EIF2A	HGNC	HGNC:3254	protein_coding	YES	1	P1	CCDS46935.1	ENSP00000417229	Q9BY44	NA	UPI00000473DB	NA	deleterious(0)	probably_damaging(1)	13/14	NA	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13227,PIRSF_domain:PIRSF017222	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	185	0	0	185	137	28	0.169697	165
rs121913274	3:179218304	C	ENSG00000121879	ENST00000263967	Transcript	missense_variant	1791	1634	545	E/A	gAg/gCg	rs121913274,CM130273,COSM764,COSM297145,COSM27155,COSM125371,COSM12458	MODERATE	NA	1	NA	SNV	PIK3CA	HGNC	HGNC:8975	protein_coding	YES	2	P1	CCDS43171.1	ENSP00000263967	P42336	NA	UPI000013D494	1	deleterious(0.02)	probably_damaging(0.932)	10/21	NA	Gene3D:1.25.40.70,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:3zim.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5dxt.A,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5ubr.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,Pfam_domain:PF00613,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF54,SMART_domains:SM00145,Superfamily_domains:SSF48371	NA	NA	NA	NA	NA	NA	NA	NA	0	0	0	0	0	0	0	0	0	0	gnomAD_AFR,gnomAD_AMR,gnomAD_ASJ,gnomAD_EAS,gnomAD_FIN,gnomAD_NFE,gnomAD_OTH,gnomAD_SAS	likely_pathogenic,pathogenic	0,0,1,1,1,1,1	1,1,1,1,1,1,1	24033266,15520168,15608678,17673550	NA	NA	NA	NA	111	0	0	111	123	34	0.216561	157
.	19:15448226	T	ENSG00000105122	ENST00000343625	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	COSM438787,COSM438786	MODIFIER	3398	-1	NA	SNV	RASAL3	HGNC	HGNC:26129	protein_coding	YES	2	P1	CCDS46006.1	ENSP00000341905	Q86YV0	NA	UPI0000197831	NA	NA	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	7	0	0	7	32	13	0.288889	45
rs769383447	19:19535082	A	ENSG00000160161	ENST00000291495	Transcript	upstream_gene_variant	NA	NA	NA	NA	NA	rs769383447,COSM1480822	MODIFIER	3183	1	NA	SNV	CILP2	HGNC	HGNC:24213	protein_coding	YES	1	P1	CCDS12405.1	ENSP00000291495	Q8IUL8	NA	UPI000013E04D	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	7.386e-05	6.552e-05	3.015e-05	0	0	0	3.625e-05	0	0.0003932	0.0003932	gnomAD_SAS	NA	0,1	0,1	NA	NA	NA	NA	NA	21	0	0	21	56	25	0.308642	81
.	19:46989641	A	ENSG00000160007	ENST00000404338	Transcript	synonymous_variant	4002	4002	1334	P	ccG/ccA	COSM4662898,COSM439860,COSM439859	LOW	NA	1	NA	SNV	ARHGAP35	HGNC	HGNC:4591	protein_coding	YES	1	P1	CCDS46127.1	ENSP00000385720	Q9NRY4	NA	UPI0000163F71	NA	NA	NA	4/6	NA	PROSITE_profiles:PS50238,hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF26,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350,PDB-ENSP_mappings:3fk2.A,PDB-ENSP_mappings:3fk2.B,PDB-ENSP_mappings:3fk2.C,PDB-ENSP_mappings:3fk2.D	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	31	0	0	31	120	36	0.230769	156
.	15:77615381	T	ENSG00000169783	ENST00000355300	Transcript	missense_variant	701	526	176	D/N	Gac/Aac	rs1000002354,COSM434355	MODERATE	NA	-1	NA	SNV	LINGO1	HGNC	HGNC:21205	protein_coding	YES	1	P3	CCDS45313.1	ENSP00000347451	Q96FE5	NA	UPI00000377A0	NA	deleterious(0.02)	probably_damaging(0.993)	2/2	NA	Gene3D:3.80.10.10,Pfam_domain:PF13306,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31,SMART_domains:SM00369,Superfamily_domains:SSF52058	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	0,1	NA	NA	NA	NA	NA	19	0	0	19	53	12	0.184615	65
.	3:46654239	G	ENSG00000251967	ENST00000516158	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	NA	MODIFIER	3649	1	NA	SNV	SNORD77	RFAM	NA	snoRNA	YES	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	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	36	16	0.307692	52
.	3:58412916	A	ENSG00000168297	ENST00000356151	Transcript	missense_variant	1590	1481	494	S/N	aGc/aAc	COSM446942	MODERATE	NA	1	NA	SNV	PXK	HGNC	HGNC:23326	protein_coding	YES	1	P1	CCDS2889.1	ENSP00000348472	Q7Z7A4	NA	UPI000004A035	NA	deleterious(0.04)	probably_damaging(0.954)	17/18	NA	Low_complexity_(Seg):seg,hmmpanther:PTHR22999	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	51	0	0	51	126	54	0.3	180
.	17:16762486	T	ENSG00000266302	ENST00000448331	Transcript	synonymous_variant,NMD_transcript_variant	3980	3840	1280	Y	taC/taT	COSM3818935,COSM3818934,COSM3818933	LOW	NA	1	NA	SNV	AC098850.4	Clone_based_ensembl_gene	NA	nonsense_mediated_decay	YES	2	P1	NA	ENSP00000440655	NA	C9JT67	UPI000022A2FF	NA	NA	NA	14/26	NA	Pfam_domain:PF12001,hmmpanther:PTHR22245,hmmpanther:PTHR22245: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	1,1,1	1,1,1	NA	NA	NA	NA	NA	118	0	0	118	59	12	0.169014	71
.	5:141476548	G	ENSG00000240184	ENST00000308177	Transcript	missense_variant	546	432	144	I/M	atT/atG	COSM448997,COSM448996	MODERATE	NA	1	NA	SNV	PCDHGC3	HGNC	HGNC:8716	protein_coding	YES	1	P1	CCDS4261.1	ENSP00000312070	Q9UN70	NA	UPI000006F34F	NA	tolerated(0.05)	probably_damaging(0.981)	1/4	NA	Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70,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	NA	NA	NA	NA	NA	25	0	0	25	37	19	0.339286	56
rs201342352	21:31497392	C	ENSG00000156299	ENST00000286827	Transcript	intron_variant	NA	NA	NA	NA	NA	rs201342352	MODIFIER	NA	-1	NA	SNV	TIAM1	HGNC	HGNC:11805	protein_coding	YES	5	P1	CCDS13609.1	ENSP00000286827	Q13009	NA	UPI000013DE6F	NA	NA	NA	NA	1/28	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	152	0	0	152	44	9	0.169811	53
.	7:7489457	T	ENSG00000215018	ENST00000399429	Transcript	missense_variant,splice_region_variant	1237	1096	366	G/R	Gga/Aga	COSM3950802	MODERATE	NA	-1	NA	SNV	COL28A1	HGNC	HGNC:22442	protein_coding	YES	1	P1	CCDS43553.1	ENSP00000382356	Q2UY09	NA	UPI000155D64E	NA	deleterious(0)	probably_damaging(0.998)	13/35	NA	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF578	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	62	0	0	62	132	14	0.09589	146
.	20:9437093	T	ENSG00000101333	ENST00000378501	Transcript	missense_variant	2684	2669	890	S/I	aGc/aTc	COSM4976560,COSM444287	MODERATE	NA	1	NA	SNV	PLCB4	HGNC	HGNC:9059	protein_coding	YES	5	A1	CCDS13104.1	ENSP00000367762	Q15147	NA	UPI00002069DF	1	tolerated(0.05)	benign(0.009)	26/36	NA	PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF106	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	37	0	0	37	79	14	0.150538	93
.	11:59809843	G	ENSG00000166902	ENST00000300151	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	-1	NA	SNV	MRPL16	HGNC	HGNC:14476	protein_coding	YES	1	P1	CCDS7976.1	ENSP00000300151	Q9NX20	NA	UPI0000073D9D	NA	NA	NA	NA	2/3	NA	NA	NA	NA	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	41	7	0.145833	48
.	11:118907491	T	ENSG00000186174	ENST00000334801	Transcript	missense_variant	1489	524	175	A/D	gCc/gAc	COSM4813710,COSM428525,COSM428524	MODERATE	NA	-1	NA	SNV	BCL9L	HGNC	HGNC:23688	protein_coding	YES	1	P2	CCDS8403.1	ENSP00000335320	Q86UU0	NA	UPI0000192102	1	deleterious(0.03)	possibly_damaging(0.64)	3/8	NA	hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF3	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1	1,1,1	NA	NA	NA	NA	NA	13	0	0	13	46	29	0.386667	75
.	10:102398275	T	ENSG00000059915	ENST00000020673	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	COSM426979	MODIFIER	4344	-1	NA	SNV	PSD	HGNC	HGNC:9507	protein_coding	YES	1	P3	CCDS31272.1	ENSP00000020673	A5PKW4	NA	UPI0000404928	NA	NA	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	58	0	0	58	181	64	0.261224	245
.	4:81110525	A	ENSG00000138669	ENST00000264399	Transcript	synonymous_variant	2058	1863	621	V	gtC/gtT	NA	LOW	NA	-1	NA	SNV	PRKG2	HGNC	HGNC:9416	protein_coding	YES	5	P1	CCDS3589.1	ENSP00000264399	Q13237	A0A140VJM3	UPI000012DDC6	NA	NA	NA	15/19	NA	PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF24,hmmpanther:PTHR24353,PIRSF_domain:PIRSF000559,Pfam_domain:PF00069,Gene3D:1.10.510.10,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	NA	NA	NA	NA	NA	NA	NA	96	0	0	96	203	8	0.037915	211
.	4:122947350	T	ENSG00000145375	ENST00000274008	Transcript	missense_variant	1645	1576	526	A/S	Gct/Tct	NA	MODERATE	NA	1	NA	SNV	SPATA5	HGNC	HGNC:18119	protein_coding	YES	1	P1	CCDS3730.1	ENSP00000274008	Q8NB90	NA	UPI000013D9E6	1	tolerated(0.17)	benign(0.236)	9/16	NA	hmmpanther:PTHR23077:SF27,hmmpanther:PTHR23077,Gene3D:3.40.50.300,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	32	0	0	32	86	6	0.065217	92
.	13:41885976	G	ENSG00000102763	ENST00000379310	Transcript	missense_variant	988	919	307	T/P	Act/Cct	NA	MODERATE	NA	-1	NA	SNV	VWA8	HGNC	HGNC:29071	protein_coding	YES	2	A2	CCDS41881.1	ENSP00000368612	A3KMH1	NA	UPI00001606AC	NA	deleterious(0.02)	benign(0.391)	8/45	NA	hmmpanther:PTHR21610	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	134	0	0	134	130	6	0.044118	136
.	13:44574165	T	ENSG00000102804	ENST00000458659	Transcript	missense_variant	2401	1910	637	S/Y	tCt/tAt	COSM432415	MODERATE	NA	-1	NA	SNV	TSC22D1	HGNC	HGNC:16826	protein_coding	YES	1	NA	CCDS31966.1	ENSP00000397435	Q15714	NA	UPI0000D61A6B	NA	deleterious(0.04)	benign(0.365)	1/3	NA	hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF21	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	21	0	0	21	75	27	0.264706	102
